Phenotypes Associated with This Genotype

Genotype
MGI:6386114

• Allelic Composition: Ercc1^tm1Jhjh/Ercc1^tm2Jhjh
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

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

hearing/vestibular/ear

cochlear hair cell degeneration ( J:280844 )

increased or absent threshold for auditory brainstem response ( J:280844 )

• at 5 weeks of age with further deterioration at 9 weeks at 8 and 16, but not 4, kHz

abnormal distortion product otoacoustic emission ( J:280844 )

• reduced at 12, but not 4, weeks

impaired hearing ( J:280844 )

• progressive

vision/eye

increased retina apoptosis ( J:280844 )

• in the outer nuclear layer at 4, 9, 18 and 25 weeks

thin retina outer nuclear layer ( J:280844 )

• progressive starting at 25 weeks

nervous system

cochlear hair cell degeneration ( J:280844 )

behavior/neurological

decreased optokinetic reflex ( J:280844 )

• progressive reduction at 10 and 14 weeks

• smaller saccades at all ages

• however, the main sequence is normal

cellular

increased retina apoptosis ( J:280844 )

• in the outer nuclear layer at 4, 9, 18 and 25 weeks