Phenotypes associated with this allele

• Allele Symbol: Barhl1^tm1Xia
• Allele Name: targeted mutation 1, Mengqing Xiang
• Allele ID: MGI:2181383
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Barhl1^tm1Xia/Barhl1^tm1Xia	involves: 129S7/SvEvBrd * C57BL/6J	MGI:2656110

Genotype
MGI:2656110

hm1

• Allelic Composition: Barhl1^tm1Xia/Barhl1^tm1Xia
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

behavior/neurological

behavior/neurological phenotype ( J:77122 )

N • homozygotes did not display circling, hyperactivity, head-tossing , or gait abnormalities

decreased startle reflex ( J:77122 )

• at 2 weeks of age, mutants started showing reduced startle responses, indicating an auditory deficit

hearing/vestibular/ear

cochlear inner hair cell degeneration ( J:77122 )

• time course analyses of the organ of Corti showed a basal-to-apical gradient of inner hair cell degeneration

cochlear outer hair cell degeneration ( J:77122 )

• time course analyses of the organ of Corti showed an apical-to-basal gradient of outer hair cell degeneration

• in the mutant cochlea, the progressive degeneration of outer hair cells was complete by 10 months of age

increased or absent threshold for auditory brainstem response ( J:77122 )

• auditory brainstem response (ABR) measurements revealed elevated thresholds at all frequencies tested; some mutants did not respond to any auditory stimuli

increased susceptibility to age-related hearing loss ( J:77122 )

• mutants displayed progressive hearing loss starting at 2 weeks of age

• young homozygotes showed a preferential loss of low-frequency hearing

• up to 50% of homozygotes also lost responsiveness to higher frequency stimuli by 3 months of age

deafness ( J:77122 )

• mutants exhibited profound deafness by 10 months of age

nervous system

cochlear inner hair cell degeneration ( J:77122 )

• time course analyses of the organ of Corti showed a basal-to-apical gradient of inner hair cell degeneration

cochlear outer hair cell degeneration ( J:77122 )

• time course analyses of the organ of Corti showed an apical-to-basal gradient of outer hair cell degeneration

• in the mutant cochlea, the progressive degeneration of outer hair cells was complete by 10 months of age