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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 (31 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
OMIM ID Ref(s)
Branchiootorenal Syndrome 1; BOR1 113650 J:57313


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory