Phenotypes Associated with This Genotype

Genotype
MGI:6277930

• Allelic Composition: S1pr2^stdf/S1pr2^stdf
• Genetic Background: involves: C57BL/6Brd * C57BL/6N

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

hearing/vestibular/ear

abnormal stria vascularis vasculature morphology ( J:240361 )

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

abnormal organ of Corti morphology ( J:240361 )

• 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

cochlear outer hair cell degeneration ( J:240361 )

• 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

abnormal strial marginal cell morphology ( J:240361 )

• 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 degeneration ( J:240361 )

• stria vascularis shows degenerative changes

decreased endocochlear potential ( J:240361 )

• endocochlear potential is reduced by 4 and 8 weeks of age

increased or absent threshold for auditory brainstem response ( J:240361 )

• 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

impaired hearing ( J:240361 )

• 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

cochlear outer hair cell degeneration ( J:240361 )

• 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

abnormal stria vascularis vasculature morphology ( J:240361 )

• 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