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Phenotypes Associated with This Genotype
Genotype
MGI:3849173
Allelic
Composition
Six1Cwe/Six1Cwe
Genetic
Background
C3HeB/FeJ-Six1Cwe
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Six1Cwe mutation (1 available); any Six1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• at E16.5
• the cochlea is severely truncated and oval and round windows are absent compared to in wild-type mice
• at E16.5, development of hair cells is disrupted compared to in wild-type mice
• at P21, utricles exhibit few hair cells unlike in wild-type mice
• at P21, mice lack sensory hair cells in the cristae ampulari and rudimentary cochlea unlike in wild-type mice
• however, the utricle contained a small patch of scattered hair cells
• ear canals are thin or truncated compared to in wild-type mice
• the anterior canal is truncated at the ampullar end unlike in wild-type mice
• the posterior crista ampularis is absent

behavior/neurological
• when held by their tail, mice curl up towards their belly and displayed jiggling behavior unlike wild-type mice
• extreme

growth/size/body

renal/urinary system
• 41% of mice exhibit a unilateral hypoplastic kidney

craniofacial
• at E16.5

skeleton
• at E16.5

nervous system
• at E16.5, development of hair cells is disrupted compared to in wild-type mice
• at P21, utricles exhibit few hair cells unlike in wild-type mice
• at P21, mice lack sensory hair cells in the cristae ampulari and rudimentary cochlea unlike in wild-type mice
• however, the utricle contained a small patch of scattered hair cells

Mouse Models of Human Disease
OMIM ID Ref(s)
Branchiootorenal Syndrome 1; BOR1 113650 J:149467


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
04/26/2016
MGI 6.03
The Jackson Laboratory