Phenotypes Associated with This Genotype

Genotype
MGI:2175870

• Allelic Composition: Eya1^bor/Eya1^bor
• Genetic Background: C3HeB/FeJ-Eya1^bor

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality, incomplete penetrance ( J:54408 )

• reduced litter size suggests perinatal lethality occurs probably relating to bilateral kidney agenesis or severe hypoplasia

behavior/neurological

head bobbing ( J:54408 )

circling ( J:54408 )

hearing/vestibular/ear

absent organ of Corti ( J:54408 )

• the organ of Corti is absent however the pharyngeal pouches are normal

decreased cochlea coiling ( J:54408 )

• only the basal quarter turn of the cochlea is seen in adults

abnormal common crus morphology ( J:54408 )

• the common crus which is formed where the superior and posterior semicircular canals meet is incomplete

decreased lateral semicircular canal size ( J:54408 )

• the lateral semicircular canal is foreshortened with a smaller diameter compared to wild-type mice

increased or absent threshold for auditory brainstem response ( J:54408 )

• homozygotes show no response to sound pressures less than 95 dB at 3-4 weeks of age

deafness ( J:54408 )

homeostasis/metabolism

increased blood urea nitrogen level ( J:54408 )

• increased BUN indicates functional stress from reduced kidney size

renal/urinary system

renal hypoplasia ( J:54408 )

• unilateral or bilateral kidney hypoplasia is more commonly seen (compared to agenesis) with the left kidney more affected than the right

• within the hypoplastic kidneys normal cellular morphology is seen

single kidney ( J:54408 )

• unilateral kidney agenesis is sometimes seen

reproductive system

female infertility ( J:54408 )

♀ • females do not breed, however homozygous males will sometimes breed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
branchiootorenal syndrome		DOID:14702		J:54408