# Utility and limitations of animal models for the functional validation of human sequence variants

**Authors:** Timothy C Cox

PMC · DOI: 10.1002/mgg3.167 · Molecular Genetics & Genomic Medicine · 2015-08-03

## Full-text entities

- **Genes:** BAZ1B (bromodomain adjacent to zinc finger domain 1B) [NCBI Gene 9031] {aka WBSCR10, WBSCR9, WSTF}, TCF3 (transcription factor 3) [NCBI Gene 6929] {aka AGM8, AGM8A, AGM8B, E2A, E47, ITF1}, Gtf2ird1 (general transcription factor II I repeat domain-containing 1) [NCBI Gene 57080] {aka 1700012P16Rik, BEN, Cream1, ESTM9, GTF3, Gtf2il}, SHH (sonic hedgehog signaling molecule) [NCBI Gene 6469] {aka HHG1, HLP3, HPE3, MCOPCB5, SMMCI, ShhNC}, sox32 (SRY-box transcription factor 32) [NCBI Gene 116990] {aka 10J3, 226D7, CG569, cas, cb527}, KMT2B (lysine methyltransferase 2B) [NCBI Gene 9757] {aka CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4}, FGFR2 (fibroblast growth factor receptor 2) [NCBI Gene 2263] {aka BBDS, BEK, BFR-1, CD332, CEK3, CFD1}, FOXG1 (forkhead box G1) [NCBI Gene 2290] {aka BF1, BF2, FHKL3, FKH2, FKHL1, FKHL2}
- **Diseases:** Bardet-Beidl syndrome (MESH:D020788), Genetic Disorders (MESH:D030342), anterior telecephalon (MESH:D020759), brain malformations (MESH:D020785), depression (MESH:D003866), chromosomal anomalies (MESH:D002869), malformations (MESH:C564254), craniofacial defects (MESH:D019465), cleft palate (MESH:D002972), Joubert syndrome (MESH:C536293), Williams-Beuren syndrome (MESH:D018980), dental anomalies (OMIM:614188), developmental, behavioral or physiological disorders (MESH:D012735), Apert syndrome (MESH:D000168), nephrolithiasis (MESH:D053040), Kabuki syndrome (MESH:C537705), cleft lip (MESH:D002971), holoprosencephaly (MESH:D016142)
- **Species:** Saccharomyces cerevisiae (baker's yeast, species) [taxon 4932], Homo sapiens (human, species) [taxon 9606], Drosophila melanogaster (fruit fly, species) [taxon 7227], Gallus gallus (bantam, species) [taxon 9031], C. elegans [taxon 328850], Mus musculus (house mouse, species) [taxon 10090], Danio rerio (leopard danio, species) [taxon 7955]
- **Mutations:** Pro253Arg, S252W, P250R

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC4585444/full.md

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC4585444/full.md

## References

22 references — full list in the complete paper: https://tomesphere.com/paper/PMC4585444/full.md

---
Source: https://tomesphere.com/paper/PMC4585444