Mouse Genome Informatics
hm
    Eya1bor/Eya1bor
C3HeB/FeJ-Eya1bor
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• reduced litter size suggests perinatal lethality occurs probably relating to bilateral kidney agenesis or severe hypoplasia

behavior/neurological

hearing/vestibular/ear
• the organ of Corti is absent however the pharyngeal pouches are normal
• only the basal quarter turn of the cochlea is seen in adults
• the common crus which is formed where the superior and posterior semicircular canals meet is incomplete
• the lateral semicircular canal is foreshortened with a smaller diameter compared to wild-type mice
• homozygotes show no response to sound pressures less than 95 dB at 3-4 weeks of age

homeostasis/metabolism
• increased BUN indicates functional stress from reduced kidney size

renal/urinary system
• 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
• unilateral kidney agenesis is sometimes seen

reproductive system
• females do not breed, however homozygous males will sometimes breed (J:54408)

Mouse Models of Human Disease
OMIM IDRef(s)
Branchiootorenal Syndrome 1; BOR1 113650 J:54408