Research

Resources and Services Core (Center for Precision Medicine Models)

Master
Heading

About the Core

Media Component
mouse
Content

Poor reproducibility of published research employing model organisms and lack of transparency of study designs are areas of concern for the scientific community. These issues can profoundly affect the interpretation of preclinical studies and must be addressed as genome editing technologies permit rapid modeling of disease-associated genetic variation and translation to the clinic. At the heart of reproducibility issues are the model organism themselves. Stability and identity of the genetic background, genome integrity, and specifics of genetically engineered alleles often vary between studies. Moreover, variabilities in the quality of study designs used by different groups, including differences in the environment, methods for phenotyping, instrumentation, sample sizes, and data analysis and statistical methods, can significantly impact study conclusions. Centralization and standardization of production, maintenance, and phenotyping pipelines for precision and pre-clinical animal models can begin to address issues with study reproducibility and transparency.

Media Component
Flies
Content

The Resources and Services Core maintains and distributes the high-quality fly and mouse model resources produced by the center. The core characterizes alleles produced by the Disease Modeling Unit, maintains and tracks colonies/stocks, and provide animal cohorts to the Disease Modeling Unit for phenotyping experiments. The core functions as the primary contact for outside investigators seeking access to our services and is responsible for communicating the availability of standardized, transparent, and high-quality services to the outside research community.

Heading

Core Members

Content
  • Denise Lanza Ph.D. (Lead)
  • Hugo Bellen, D.V.M., Ph.D. (Co-Lead)
  • Oguz Kanca, Ph.D.
Heading

Fly Resources Available from the Baylor CPMM

Content
Human Gene

Human Variant(s) Being Modeled

Disease Association of Variant(s) Being modeledFly Mutant or Transgenic line: (Reagent Description)Request Fly
AXIN2Missense and nonsense variantsPreviously reported variants in Oligodontia-colorectal cancer syndrome (OMIM #608615) and a novel variant related to a potential phenotypic expansion of AXIN2-related disorderAxnCR70218-TG4.2 (T2A-GAL4 allele of the fly ortholog Axn)BDSC 93803
UAS-AXIN2 (UAS transgenic line that allows the expression of human AXIN2 without a tag)Request from Yamamoto lab
UAS-AXIN2p.E66K(UAS transgenic line that allows the expression of human AXIN2 with a p.E66K variant)Request from Yamamoto lab
UAS-AXIN2p.R656X(UAS transgenic line that allows the expression of human AXIN2 with a p.R656X variant)Request from Yamamoto lab
UAS-AXIN2p.R663X(UAS transgenic line that allows the expression of human AXIN2 with a p.R663X variant)Request from Yamamoto lab
CDKL1Missense variantsPotential novel diseaseCG7236CR70087-TG4.2 (T2A-GAL4 allele of the fly ortholog CG7236)BDSC 98479
UAS-CDKL1::HA (UAS transgenic line that allows the expression of human GPKOW tagged with a C’-3xHA tag)BDSC 82284 
UAS-CDKL1 p.V115A::HA (UAS transgenic line that allows the expression of human CDKL1 with a p.V115A variant tagged with a C’-3xHA tag)Request from Yamamoto lab
UAS-CDKL1 p.R168C::HA (UAS transgenic line that allows the expression of human CDKL1 with a p.R168C variant tagged with a C’-3xHA tag)Request from Yamamoto lab
  
DDX39BMissense variantsPotential novel diseaseHel25ECR70488-KO-kG4 (Kozak-GAL4 allele of the fly ortholog Hel25E)Request from Bellen Lab
UAS-DDX39B (UAS transgenic line that allows the expression of human DDX39B without a tag)Request from Yamamoto lab
UAS-DDX39Bp.G37C(UAS transgenic line that allows the expression of human DDX39B with a p.G37C variant)Request from Yamamoto lab
UAS-DDX39Bp.G92D (UAS transgenic line that allows the expression of human DDX39B with a p.G92D variant)Request from Yamamoto lab
UAS-DDX39Bp.R123Q(UAS transgenic line that allows the expression of human DDX39B with a p.R123Q variant)Request from Yamamoto lab
FRYLMissense variantsPotential novel diseasefryMI12326-TG4.1 (T2A-GAL4 allele of the fly ortholog fry)BDSC 76736
fryMI01128-GFSTF.1 (Internally GFP tagged allele of fry)BDSC 59769
fryMI02265-GFSTF.2 (Internally GFP tagged allele of fry)BDSC 60180
fryF2024L.PE (knock-in allele of p.F2024L variant in fry generated using prime editing)Request from Bellen Lab
fryF2746S.PE (knock-in allele of p.F2746S variant in fry generated using prime editing)Request from Bellen Lab
fryF2024L.RMCE (knock-in allele of p.F2024L variant in fry generated using recombinase mediated cassette exchange (RMCE) of a MiMIC element)Request from Bellen Lab
fryF2746I.RMCE (knock-in allele of p.F2746I variant in fry generated using RMCE of a MiMIC element)Request from Bellen Lab
fryF2910I.RMCE (knock-in allele of p.F2910I variant in fry generated using RMCE of a MiMIC element)Request from Bellen Lab
fryY3410C.RMCE (knock-in allele of p.Y3410C variant in fry generated using RMCE of a MiMIC element)Request from Bellen Lab
fryWT.RMCE (knock-in allele of wild-type fry gene generated using RMCE of a MiMIC element, which serves as a control)Request from Bellen Lab
  
GPKOWFrameshift variantPotential novel diseaseCG10324CR70276-KO-kG4 (Kozak-GAL4 allele of the fly ortholog CG10324)Request from Bellen Lab
UAS-GPKOW::HA (UAS transgenic line that allows the expression of human GPKOW tagged with a C’-3xHA tag)Request from Yamamoto lab
UAS-GPKOWp.S444EfsX28::HA (UAS transgenic line that allows the expression of human GPKOW with a p.S444EfsX28 variant tagged with a C’-3xHA tag)Request from Yamamoto lab
UBA5Various missense variantsDevelopmental and epileptic encephalopathy 44 OMIM 617132Uba5CR00497-TG4.2(T2A-GAL4 allele of the fly ortholog Uba5)BDSC 78928 
Uba5KO (Null allele of the fly Uba5)Request from Bellen Lab
Dp(1;3)DC240 (a ~88kb BAC that can be used as a genomic rescue transgene for fly Uba5)BDSC 30359
UAS-UBA5::HA (UAS transgenic line that allows the expression of human UBA5 tagged with a C’-3xHA tag)BDSC 602405
UAS-UBA5 (UAS transgenic line that allows the expression of human UBA5 without a tag)BDSC 602406
UAS-UBA5p.A371T (UAS transgenic line that allows the expression of human UBA5 with a p.A371T variant)BDSC 602407
UAS-UBA5p.D389G (UAS transgenic line that allows the expression of human UBA5 with a p.D389G variant)BDSC 602408
UAS-UBA5p.D389Y (UAS transgenic line that allows the expression of human UBA5 with a p.D389Y variant)BDSC 602409
UAS-UBA5p.M57V (UAS transgenic line that allows the expression of human UBA5 with a p.M57V variant)BDSC 602410
UAS-UBA5p.V260M (UAS transgenic line that allows the expression of human UBA5 with a p.V260M variant)BDSC 602411
UAS-UBA5p.Y53F (UAS transgenic line that allows the expression of human UBA5 with a p.Y53F variant)BDSC 602413
UAS-UBA5p.R55H (UAS transgenic line that allows the expression of human UBA5 with a p.R55H variant)BDSC 602414
UAS-UBA5p.R72C (UAS transgenic line that allows the expression of human UBA5 with a p.R72C variant)BDSC 602415
UAS-UBA5p.C250A (UAS transgenic line that allows the expression of human UBA5 with a p.C250A variant)BDSC 602416
UAS-UBA5p.L254P (UAS transgenic line that allows the expression of human UBA5 with a p.L254P89G variant)BDSC 602417
UAS-UBA5p.Q312L (UAS transgenic line that allows the expression of human UBA5 with a p.Q312L variant)BDSC 602418
Heading

Mouse Resources Available from the Baylor CPMM

Content
Human Gene

Human Variant(s) Being Modeled

Disease Association of Variant(s) Being modeledMouse Allele Description and Genetic BackgroundRequest Mice
ACOX1Various loss of function mutationsPeroxisomal acyl-CoA oxidase deficiency OMIM 264470 Acox1em1(IMPC)Bay
Constitutive KO
C57Bl/6NJ
MMRRC_071565-UNC 
ALBNM_000477.7:c.53C>T;
p.Ser18Phe
No established disease associationAlbem1Bay
Constitutive KI 
C57Bl/6J
 
Request from center
ANKRD17NM_032217.4:c.1408C>T; p.P470SNo established disease associationAnkrd17em1Bay
Constitutive KI 
C57Bl/6J
Request from center
AXIN2NM_004655.3 c.196G>A; p.E66KPreviously reported variants in Oligodontia-colorectal cancer syndrome (OMIM #608615) and a novel variant related to a potential phenotypic expansion of AXIN2-related disorderAxin2em1Bay
Constitutive KO
C57Bl/6J
 
Request from center
BCHEhg38 3: 165,772,904-165,837,462Butyrlcholinesterase deficiency OMIM 617936Bcheem1Bay
Constitutive KO
C57Bl/6J
Request from center
DNM1LNM_012062.5: c.1207C>T; p.R403C
 
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 OMIM 614388Dnm1lem1Bay
Conditional KI
C57Bl/6J
Request from center
FGFR2NM_000141.5:c.870G>C(or>T); p.Trp290CysPfeiffer syndrome OMIM 101600Fgfr2em1Bay
Conditional KI
C57Bl/6J
Request from center
FTH1NM_002032.3:c.512_513del; p.Phe171TerNeurodegeneration with brain iron accumulation 9 OMIM 620669 Fth1em1Bay
Constitutive KI
C57Bl/6J
Request from center
KMOVarious loss of function mutations No established disease associationKmoem1Bay
Interval Deletion
C57Bl/6J
Request from center
POGLUT1NM_152305.3:c.386T>C; p.I129TMuscular dystrophy, limb-girdle, autosomal recessive 21 OMIM 617232 Poglut1em1Bay
Constitutive KI 
C57Bl/6J
Request from center
NM_152305.3:c.835G>A; p.R279QMuscular dystrophy, limb-girdle, autosomal recessive 21 OMIM 617232  Poglut1em2Bay
Constitutive KI 
C57Bl/6J
NRBP1NM_013392.4:c.272G>A; p.G91DNo established disease associationNrbp1em1Bay
Constitutive KI 
C57Bl/6J
Request from center
PRPH2NM_000322.5:c.397G>A; p.Gly133ArgNo established disease associationPrph2em1Bay
Constitutive KI 
C57Bl/6J
Request from center
SLC31A1NM_001859.4:c.284 G>A; p.R95HCopper transport defect OMIM 620306Slc31a1em1Bay
Constitutive KI 
C57Bl/6J
Request from center
UBA5NM_024818.6:c.1111G>A; p.A371TDevelopmental and epileptic encephalopathy 44 OMIM 617132,
Spinocerebellar ataxia, autosomal recessive 24 OMIM 617133
Uba5em3Bay
Constitutive KI 
C57Bl/6J
Request from center
NM_024818.6 c.169A>G; p.M57VUba5em4Bay
Constitutive KI 
C57Bl/6J
 
NM_024818.6 c.934A>G; p.Q312LUba5em5Bay
Constitutive KI 
C57Bl/6J
Loss of function mutationUba5em1Bay
Conditional KO
C57Bl/6J
Uba5em2Bay
Constitutive KO 
C57Bl/6J
USP9Xhg38 X: 41,207,032-41,212,350 x1No established disease association Usp9xem1Bay
Conditional KO
C57Bl/6J
Request from center