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Phenotypes Associated with This Genotype
Genotype
MGI:3692665
Allelic
Composition
S1pr2tm1Ajml/S1pr2tm1Ajml
Genetic
Background
either: (involves: 129S5/SvEvBrd) or (involves: 129S5/SvEvBrd * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
S1pr2tm1Ajml mutation (0 available); any S1pr2 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: on a 50:50 129SvEvBrd:C57BL/6 background homozygotes exhibit a ~15% overall death rate from seizures; however, on a pure 129SvEvBrd background the overall death rate drops below 5%

behavior/neurological
• 42.9% of aging homozygotes (aged 70 days or older) exhibit impaired swimming ability, in the absence of overt motor dysfunction
• 45.7% of aging homozygotes (aged 70 days or older) exhibit tilted heads
• Background Sensitivity: on a 50:50 129SvEvBrd:C57BL/6 background, some homozygotes display rare (mean <4 during lifespan), brief (mean <5 s) seizures; on a pure 129SvEvBrd background, the period of seizure susceptibility is reduced by ~75%; no seizures and death are noted on a purified C57BL/6NCrlBr background

hearing/vestibular/ear
• occasional otosclerosis is detected well after the onset of hearing loss
• in some cases, Reissner's membrane exits distant from its typical emergence from the upper limit of the stria vascularis
• in other cases, it appears to be partially collapsed over the stria vascularis
• Rosenthal's canal is progressively and completely depleted of cell bodies and processes with increasing age
• cochlear OHCs are lost with increasing age to a greater extent than in control inner ears (J:112371)
• by 3 weeks, the tunnel of Corti/Nuel's space structures are consistently abnormal
• with time, many structures of the organ of Corti are completely lost
• aging homozygotes exhibit a much thinner stria vascularis (J:112371)
• in older homozygotes, the tectorial membrane is encased in a membrane-like cover, shows fiber-like striations, and is tilted from the site where the organ of Corti would lie
• commonly, epithelial-like cells form "nests" at the site where Reissner's membrane and the tectorial membrane lie together in both basal and apical cochlear turns
• basal cochlear turns are more affected, consistent with the only ABR signal from mutant mice being in response to the lowest frequency tone
• the scala media portion of the cochlear labyrinth is reduced with increasing age
• at one year, homozygotes display significant saccular degeneration
• aging homozygotes display decreases in the otoconia of both the utricle and saccule relative to age-matched controls (J:112371)
• loss of utricular otoconia precedes the vestibular defects (head tilt and swimming) and does not predict the behavioral defects as well as the loss of saccular otoconia (J:112371)
• homozygotes show no ABR responses at 100 dB (highest intensity tested); the threshold, were there to be any response, would thus be >100 dB
• as early as P22, 100% of homozygotes are profoundly deaf, as shown by lack of auditory evoked brainstem (ABR) responses, while the vestibular defects are present in 40-50% of mutant mice (J:112371)
• at P22, one homozygote showed a slight response to very high intensity (90 dB) 8 kHz tones but failed to respond to 100 dB clicks, 16 kHz tones or 32 kHz tones; all other homozygotes failed to respond to all tones and clicks (J:112371)
• both old and young homozygotes fail to display any of the expected ABR peaks, suggesting defects in peripheral components of the auditory system (J:112371)
• aging homozygotes show signs of vestibular dysfunction e.g. head tilt and impaired swimming

nervous system
• Background Sensitivity: on a 50:50 129SvEvBrd:C57BL/6 background, some homozygotes display rare (mean <4 during lifespan), brief (mean <5 s) seizures; on a pure 129SvEvBrd background, the period of seizure susceptibility is reduced by ~75%; no seizures and death are noted on a purified C57BL/6NCrlBr background
• cochlear OHCs are lost with increasing age to a greater extent than in control inner ears (J:112371)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive nonsyndromic deafness 68 DOID:0110519 OMIM:610419
J:231927


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory