About the Core

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.

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.
Core Members
- Denise Lanza Ph.D. (Lead)
- Hugo Bellen, D.V.M., Ph.D. (Co-Lead)
- Oguz Kanca, Ph.D.
Fly Resources Available from the Baylor CPMM
Human Gene | Human Variant(s) Being Modeled | Disease Association of Variant(s) Being modeled | Fly Mutant or Transgenic line: (Reagent Description) | Request Fly |
---|---|---|---|---|
AXIN2 | Missense and nonsense variants | Previously reported variants in Oligodontia-colorectal cancer syndrome (OMIM #608615) and a novel variant related to a potential phenotypic expansion of AXIN2-related disorder | AxnCR70218-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 | |||
CDKL1 | Missense variants | Potential novel disease | CG7236CR70087-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 | |||
DDX39B | Missense variants | Potential novel disease | Hel25ECR70488-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 | |||
FRYL | Missense variants | Potential novel disease | fryMI12326-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 | |||
GPKOW | Frameshift variant | Potential novel disease | CG10324CR70276-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 | |||
UBA5 | Various missense variants | Developmental and epileptic encephalopathy 44 OMIM 617132 | Uba5CR00497-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 |