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Phenotypes Associated with This Genotype
Genotype
MGI:2673512
Allelic
Composition
Atp6v1b1tm1Choo/Atp6v1b1tm1Choo
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp6v1b1tm1Choo mutation (0 available); any Atp6v1b1 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• urinary Ca2+/Cr ratios are decreased unlike in human patients with homozygous loss of ATP6V1B1 where calcium levels are increased
• 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
• the rate of intracellular pH recovery in intercalcated cells is markedly reduced after cellular acidification but is not affected by concanamycin treatment

homeostasis/metabolism
• decrease in venous plasma bicarbonate level following acid loading
• urinary Ca2+/Cr ratios are decreased unlike in human patients with homozygous loss of ATP6V1B1 where calcium levels are increased
• 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
• 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
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
• inner ear histology, auditory brainstem responses, and endocochlear potentials are unaffected, indicating normal inner ear function

skeleton
N
• bone density is normal


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/19/2026
MGI 6.24
The Jackson Laboratory