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Phenotypes Associated with This Genotype
Genotype
MGI:5910007
Allelic
Composition
Atp6v1b1vtx/Atp6v1b1vtx
Genetic
Background
MRL/MpJ-Atp6v1b1vtx/Kjn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp6v1b1vtx mutation (2 available); any Atp6v1b1 mutation (32 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• Background Sensitivity: while potassium, sodium and chloride concentrations in urine are normal, homozygotes have decreased calcium in the urine with an approximately 70% decrease on the MRL/MpJ background (45.9 +/- 6.01 mg/g versus 163.3 +/- 17.4 mg/g in the wild-type control) and this difference is less severe on the C57BL/6J background

renal/urinary system
• Background Sensitivity: while potassium, sodium and chloride concentrations in urine are normal, homozygotes have decreased calcium in the urine with an approximately 70% decrease on the MRL/MpJ background (45.9 +/- 6.01 mg/g versus 163.3 +/- 17.4 mg/g in the wild-type control) and this difference is less severe on the C57BL/6J background

hearing/vestibular/ear
• Background Sensitivity: the boney interscalar septum between the lower cochlear base and lower apical turn is frequently absent
• Background Sensitivity: as part of the abnormal histology, the attachment point can be displaced to the medial side of the elongated spiral limbus
• stubby and misshapen with few fibrocytes, especially apically
• Background Sensitivity: at embryonic day 15 the membranous labyrinth is dilated relative to that found in heterozygotes or homozygotes on a C57BL/6J background, and this enlargement is more pronounced at birth and the swelling of the endolymphatic sac and duct as well as the utricle, saccule and cochlear duct is apparent
• Background Sensitivity: lateral expansion of fluid spaces with basal displacement of the organ of Corti
• Background Sensitivity: outer hair cells absent in the chochlear base but mostly present in the apex
• Background Sensitivity: extremely thin throughout the cochlea and Type I and III fibrocytes are almost entirely missing behind the stria
• Background Sensitivity: cleared whole mounts of the inner ear from P1 pups shows only a few widely dispersed otoconial crystals, and the few otoconia that adults have are very large and mis-shaped, tending toward triangular shapes, and in 5 of 9 homozygotes these large otoconia were found in scala media, but in heterozygotes or C57BL/6J homozygotes there are only normal appearing otoconia in both the utricle and saccule
• resulting in increased endolymph volume
• Background Sensitivity: EP nearly absent in homozygotes on the MRL/MpJ background assessed between 2.5 and 4.5 months of age, although heterozygotes on the MRL/MpJ background and homozygotes on the C57BL/6J congenic background are normal
• Background Sensitivity: on the MRL/MpJ background homozygotes assessed between 4 and 6 weeks of age display no or almost no response at 8, 16, or 32 kHz, between 2.5 and 4.5 months of age fail to elicit an ABR even at 100 dB SPL, but heterozygotes do not display this deafness and homozygotes on a C57BL/6J congenic background also do not display this deafness

behavior/neurological
• Background Sensitivity: variable head tilting on the MRL/MpJ background but not found on the C57BL/6J background
• Background Sensitivity: on the MRL/MpJ background but not the C57BL/6J background

skeleton
• Background Sensitivity: extremely thin throughout the cochlea and Type I and III fibrocytes are almost entirely missing behind the stria

nervous system
• Background Sensitivity: outer hair cells absent in the chochlear base but mostly present in the apex


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
11/12/2024
MGI 6.24
The Jackson Laboratory