Phenotypes associated with this allele

• Allele Symbol: Atp6v1b1^tm1Choo
• Allele Name: targeted mutation 1, Daniel Choo
• Allele ID: MGI:2673510
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp6v1b1^tm1Choo/Atp6v1b1^tm1Choo	involves: 129S1/Sv	MGI:5464280
hm2	Atp6v1b1^tm1Choo/Atp6v1b1^tm1Choo	involves: 129S1/Sv * C57BL/6	MGI:2673512

Genotype
MGI:5464280

hm1

• Allelic Composition: Atp6v1b1^tm1Choo/Atp6v1b1^tm1Choo
• Genetic Background: involves: 129S1/Sv

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

behavior/neurological

abnormal response to novel odor ( J:192002 )

• mutant females spend less time investigating a male urine presentation than do wild-type females

• mutant males show a blunted response to trimethyl-thiazoline (volatile component of fox feces) compared to wild-type males

taste/olfaction

abnormal olfactory system physiology ( J:192002 )

• increase in the pH of the luminal side of the olfactory epithelium

homeostasis/metabolism

abnormal pH regulation ( J:192002 )

• increase in the pH of the luminal side of the olfactory epithelium

Genotype
MGI:2673512

hm2

• Allelic Composition: Atp6v1b1^tm1Choo/Atp6v1b1^tm1Choo
• Genetic Background: involves: 129S1/Sv * C57BL/6

renal/urinary system

abnormal urine calcium level ( J:101414 )

• urinary Ca2+/Cr ratios are decreased unlike in human patients with homozygous loss of ATP6V1B1 where calcium levels are increased

decreased urine osmolality ( J:101414 )

increased urine pH ( J:101414 )

• in mice on a standard chow diet (pH of 7.2 compared to 6.1 in wild-type controls)

• after acid loading urine is markedly more alkaline than in similarly treated wild-type controls

• furosemide treatment fails to increase urine acidity

abnormal renal transport ( J:101414 )

• the rate of intracellular pH recovery in intercalcated cells is markedly reduced after cellular acidification but is not affected by concanamycin treatment

homeostasis/metabolism

decreased circulating bicarbonate level ( J:101414 )

• decrease in venous plasma bicarbonate level following acid loading

abnormal urine calcium level ( J:101414 )

• urinary Ca2+/Cr ratios are decreased unlike in human patients with homozygous loss of ATP6V1B1 where calcium levels are increased

acidosis ( J:101414 )

• following acid loading (1.5% NH4Cl/1% sucrose in water), acidosis is more severe in mutants compared to wild-type mice

• however, unlike in human patients with homozygous loss of ATP6V1B1 systemic acidosis is not detected in mice on a standard chow diet

decreased urine osmolality ( J:101414 )

increased urine pH ( J:101414 )

• in mice on a standard chow diet (pH of 7.2 compared to 6.1 in wild-type controls)

• after acid loading urine is markedly more alkaline than in similarly treated wild-type controls

• furosemide treatment fails to increase urine acidity

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:84744 )

N • at 5-8 months of age, homozygotes exhibit a normal Preyer's reflex and do not display circling/waltzing behaviors or other signs of vestibular dysfunction

N • inner ear histology, auditory brainstem responses, and endocochlear potentials are unaffected, indicating normal inner ear function

skeleton

skeleton phenotype ( J:101414 )

N • bone density is normal