Phenotypes associated with this allele

• Allele Symbol: Slc12a7^tm1Tjj
• Allele Name: targeted mutation 1, Thomas J Jentsch
• Allele ID: MGI:2383981
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc12a7^tm1Tjj/Slc12a7^tm1Tjj	involves: 129/Sv * C57BL/6	MGI:3033376

Genotype
MGI:3033376

hm1

• Allelic Composition: Slc12a7^tm1Tjj/Slc12a7^tm1Tjj
• Genetic Background: involves: 129/Sv * C57BL/6

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

behavior/neurological

behavior/neurological phenotype ( J:76136 )

N • normal vestibular and motor function

absent pinna reflex ( J:76136 )

• absent Pinna reflex in adult mice

growth/size/body

decreased body weight ( J:76136 )

• approximately 90% that of wild-type littermates

hearing/vestibular/ear

abnormal inner ear morphology ( J:76136 )

• Reissner's membrane remained intact

absent cochlear outer hair cells ( J:76136 )

• near absence of the outer hair cells of the basal turns of the cochlea by 21 days of age

• inner hair cells were still present at the basal turns of the cochlea at 21 days of age

cochlear outer hair cell degeneration ( J:76136 )

• degeneration proceeded from basal to apical turns of cochlea

• some inner hair cells persisted in the cochlear apical turns in adult mice, and most likely account for the observed residual hearing

absent organ of Corti ( J:76136 )

• completely absent in basal turns

organ of Corti degeneration ( J:76136 )

increased or absent threshold for auditory brainstem response ( J:76136 )

• ABR responses are normal at P14, but deteriorate rapidly thereafter, with a hearing loss of 70-80 dB

impaired hearing ( J:76136 )

• while hearing was normal at 14 days of age, it deteriorated during the third week of life

deafness ( J:76136 )

• mice were nearly deaf by 21 days of age

homeostasis/metabolism

renal tubular acidosis ( J:76136 )

• putatively due to impaired chloride recycling across the basolateral membrane of acid secreting alpha-intercalated cells of the distal nephron

increased urine pH ( J:76136 )

• increased alkalinity

• normal levels of Na⁺, K⁺, Cl^-

renal/urinary system

renal tubular acidosis ( J:76136 )

• putatively due to impaired chloride recycling across the basolateral membrane of acid secreting alpha-intercalated cells of the distal nephron

increased urine pH ( J:76136 )

• increased alkalinity

• normal levels of Na⁺, K⁺, Cl^-

vision/eye

vision/eye phenotype ( J:76136 )

N • normal vision

nervous system

absent cochlear outer hair cells ( J:76136 )

• near absence of the outer hair cells of the basal turns of the cochlea by 21 days of age

• inner hair cells were still present at the basal turns of the cochlea at 21 days of age

cochlear outer hair cell degeneration ( J:76136 )

• degeneration proceeded from basal to apical turns of cochlea

• some inner hair cells persisted in the cochlear apical turns in adult mice, and most likely account for the observed residual hearing

cochlear ganglion degeneration ( J:76136 )

• degeneration of the neurons of the cochlear ganglion