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Phenotypes Associated with This Genotype
Genotype
MGI:6277930
Allelic
Composition
S1pr2stdf/S1pr2stdf
Genetic
Background
involves: C57BL/6Brd * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
S1pr2stdf mutation (1 available); any S1pr2 mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• strial capillaries show dilation in patches in some mice at P56
• 5 week old severely hearing impaired mice show some abnormalities of the organ of Corti
• however, no gross anatomical defects are seen in the middle ear, ossicles, or inner ear
• mice with click thresholds of 95dB SPL or no ABRs show outer hair cell degeneration from the middle turn of the cochlea towards the base
• mice exhibit a base-to-apex gradient in hair cell degeneration
• strial marginal cell boundaries are less regular at P28, showing a mixture of larger and smaller boundaries, losing their normal hexagonal/pentagonal shapes, and by P56, some extremely large or small marginal cell boundaries
• stria vascularis shows degenerative changes
• endocochlear potential is reduced by 4 and 8 weeks of age
• mice show a wide range of auditory sensitivity at 4 weeks of age and higher auditory brainstem responses (ABRs) at 8 and 14 weeks indicating progressive deterioration of ABRs with increasing age
• while 2 week old mice have normal hearing, by 4 weeks of age, most mice show variable degrees of hearing impairment which becomes severe in all mice by 14 weeks indicating an early onset of progressive hearing loss

nervous system
• mice with click thresholds of 95dB SPL or no ABRs show outer hair cell degeneration from the middle turn of the cochlea towards the base
• mice exhibit a base-to-apex gradient in hair cell degeneration

cardiovascular system
• strial capillaries show dilation in patches in some mice at P56

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive nonsyndromic deafness 68 DOID:0110519 OMIM:610419
J:240361


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
02/23/2021
MGI 6.16
The Jackson Laboratory