About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3054668
Allelic
Composition
Eya1tm1Rilm/Eya1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1tm1Rilm mutation (1 available); any Eya1 mutation (56 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• unilateral kidney agenesis was seen in 2 out of 11 mutants

hearing/vestibular/ear
• at E17.5, 17 of 20 heterozygous mutant inner ears (9 of 10 embryos) display a shortened cochlea with < 1.75 to ~1.5 turns, 3 of 20 (2 embryos) display < 1.5 to ~1.25 turns, and 1 innear ear (1 embryo) completes < 1.25 to ~1.0 turns; no less than 1.0 turns are observed
• at E17.5, 2 of 20 heterozygous mutant inner ears (2 of 10 embryos) display a truncated endolymphatic duct/sac

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
branchiootorenal syndrome DOID:14702 J:57313


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory