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Phenotypes Associated with This Genotype
Genotype
MGI:2671154
Allelic
Composition
Rdxtm1Sts/Rdxtm1Sts
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rdxtm1Sts mutation (0 available); any Rdx mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Stereocilia abnormalities on Rdxtm1Sts/Rdxtm1Sts cochlear hair cells of adult and newborn mice

homeostasis/metabolism
• serum levels start to rise around 4 weeks of age (J:77485)
• marked conjugated hyperbilirubinemia eventually develops (J:77485)
• serum levels start to rise around 4 weeks of age (J:77485)
• marked conjugated hyperbilirubinemia eventually develops (J:77485)
• serum alkaline phosphatase levels increase after hyperbilirubinemia develops (J:77485)
• serum alkaline phosphatase levels increase after hyperbilirubinemia develops (J:77485)
• serum aspartate transaminase levels increase after hyperbilirubinemia develops (J:77485)
• serum aspartate transaminase levels increase after hyperbilirubinemia develops (J:77485)

liver/biliary system
• liver was normal to 8 weeks of age (J:77485)
• mild degenerative changes were detectable after 16 weeks (J:77485)
• microvilli of the bile canalicular membrane break down (J:77485)
• liver was normal to 8 weeks of age (J:77485)
• mild degenerative changes were detectable after 16 weeks (J:77485)
• microvilli of the bile canalicular membrane break down (J:77485)

behavior/neurological
• at 5-10-weeks of age, homozygotes show absence of Preyer's reflex in response to a loud handclap (J:124151)
• however, adult homozygotes display no signs of imbalance up to P100, consistent with a normal vestibule (J:124151)
• in addition, at 5-10 weeks of age, homozygotes display a normal vestibulo-ocular reflex at all head rotation frequencies (J:124151)
• at 5-10-weeks of age, homozygotes show absence of Preyer's reflex in response to a loud handclap (J:124151)
• however, adult homozygotes display no signs of imbalance up to P100, consistent with a normal vestibule (J:124151)
• in addition, at 5-10 weeks of age, homozygotes display a normal vestibulo-ocular reflex at all head rotation frequencies (J:124151)

hearing/vestibular/ear
• after the onset of hearing, homozygotes display progressive degeneration of ezrin-based stereocilia of cochlear hair cells (J:124151)
• ezrin appears to compensate for radixin deficiency in the development of cochlear hair cell stereocilia, at least up to P14 (J:124151)
• in contrast, ezrin-based vestibular stereocilia are maintained normally, with no differences in the number/density or morphology of vestibular stereocilia detected at 5-10 weeks (J:124151)
• no abnormality in otolith organs (utricle and saccule) is observed (J:124151)
• after the onset of hearing, homozygotes display progressive degeneration of ezrin-based stereocilia of cochlear hair cells (J:124151)
• ezrin appears to compensate for radixin deficiency in the development of cochlear hair cell stereocilia, at least up to P14 (J:124151)
• in contrast, ezrin-based vestibular stereocilia are maintained normally, with no differences in the number/density or morphology of vestibular stereocilia detected at 5-10 weeks (J:124151)
• no abnormality in otolith organs (utricle and saccule) is observed (J:124151)
• at P40, mutant IHCs display several shorter fused protrusions instead of stereocilia (J:124151)
• at P40, mutant IHCs display several shorter fused protrusions instead of stereocilia (J:124151)
• at ~P14, homozygotes begin to exhibit signs of OHC stereocilia degeneration: the central part of the W-shaped row of stereocilia is lost, leaving discontinuous and disorganized arrays of stereocilia (J:124151)
• at 3 weeks, ezrin-based OHC stereocilia are found at various degeneration stages (J:124151)
• during degeneration, ezrin-based OHC stereocilia as well as core bundles appear to be fused to form abnormal thick and short protrusions (J:124151)
• at P40, mutant OHC stereocilia are deformed to 1?3 residual knoblike protrusions on the apical surfaces, instead of being arranged in a ""W"" shape as in wild-type mice (J:124151)
• at ~P14, homozygotes begin to exhibit signs of OHC stereocilia degeneration: the central part of the W-shaped row of stereocilia is lost, leaving discontinuous and disorganized arrays of stereocilia (J:124151)
• at 3 weeks, ezrin-based OHC stereocilia are found at various degeneration stages (J:124151)
• during degeneration, ezrin-based OHC stereocilia as well as core bundles appear to be fused to form abnormal thick and short protrusions (J:124151)
• at P40, mutant OHC stereocilia are deformed to 1?3 residual knoblike protrusions on the apical surfaces, instead of being arranged in a ""W"" shape as in wild-type mice (J:124151)
• at >P90, cochlear hair cells appear to undergo degeneration (J:124151)
• however, no obvious gross morphological malformations are noted in cochlea or hair cells up to P60 (J:124151)
• at >P90, cochlear hair cells appear to undergo degeneration (J:124151)
• however, no obvious gross morphological malformations are noted in cochlea or hair cells up to P60 (J:124151)
• at >P90, the organ of Corti appears fairly disorganized due to elimination of cochlear hair cells (J:124151)
• at >P90, the organ of Corti appears fairly disorganized due to elimination of cochlear hair cells (J:124151)
• at 5-10 weeks of age, three homozygotes studied show no auditory-evoked brainstem responses in response to a stimulus with a sound pressure level (SPL) of 70 decibels (dB) at 20 kHz (J:124151)
• at 10 weeks of age, homozygotes exhibit increased ABR thresholds of >70-90 dB SPL relative to wild-type and heterozygous mice which show normal hearing thresholds (10-50 dB SPL) (J:124151)
• at 5-10 weeks of age, three homozygotes studied show no auditory-evoked brainstem responses in response to a stimulus with a sound pressure level (SPL) of 70 decibels (dB) at 20 kHz (J:124151)
• at 10 weeks of age, homozygotes exhibit increased ABR thresholds of >70-90 dB SPL relative to wild-type and heterozygous mice which show normal hearing thresholds (10-50 dB SPL) (J:124151)
• at 10 weeks of age, homozygotes are profoundly deaf (J:124151)
• at 10 weeks of age, homozygotes are profoundly deaf (J:124151)

nervous system
• after the onset of hearing, homozygotes display progressive degeneration of ezrin-based stereocilia of cochlear hair cells (J:124151)
• ezrin appears to compensate for radixin deficiency in the development of cochlear hair cell stereocilia, at least up to P14 (J:124151)
• in contrast, ezrin-based vestibular stereocilia are maintained normally, with no differences in the number/density or morphology of vestibular stereocilia detected at 5-10 weeks (J:124151)
• no abnormality in otolith organs (utricle and saccule) is observed (J:124151)
• after the onset of hearing, homozygotes display progressive degeneration of ezrin-based stereocilia of cochlear hair cells (J:124151)
• ezrin appears to compensate for radixin deficiency in the development of cochlear hair cell stereocilia, at least up to P14 (J:124151)
• in contrast, ezrin-based vestibular stereocilia are maintained normally, with no differences in the number/density or morphology of vestibular stereocilia detected at 5-10 weeks (J:124151)
• no abnormality in otolith organs (utricle and saccule) is observed (J:124151)
• at P40, mutant IHCs display several shorter fused protrusions instead of stereocilia (J:124151)
• at P40, mutant IHCs display several shorter fused protrusions instead of stereocilia (J:124151)
• at ~P14, homozygotes begin to exhibit signs of OHC stereocilia degeneration: the central part of the W-shaped row of stereocilia is lost, leaving discontinuous and disorganized arrays of stereocilia (J:124151)
• at 3 weeks, ezrin-based OHC stereocilia are found at various degeneration stages (J:124151)
• during degeneration, ezrin-based OHC stereocilia as well as core bundles appear to be fused to form abnormal thick and short protrusions (J:124151)
• at P40, mutant OHC stereocilia are deformed to 1?3 residual knoblike protrusions on the apical surfaces, instead of being arranged in a ""W"" shape as in wild-type mice (J:124151)
• at ~P14, homozygotes begin to exhibit signs of OHC stereocilia degeneration: the central part of the W-shaped row of stereocilia is lost, leaving discontinuous and disorganized arrays of stereocilia (J:124151)
• at 3 weeks, ezrin-based OHC stereocilia are found at various degeneration stages (J:124151)
• during degeneration, ezrin-based OHC stereocilia as well as core bundles appear to be fused to form abnormal thick and short protrusions (J:124151)
• at P40, mutant OHC stereocilia are deformed to 1?3 residual knoblike protrusions on the apical surfaces, instead of being arranged in a ""W"" shape as in wild-type mice (J:124151)
• at >P90, cochlear hair cells appear to undergo degeneration (J:124151)
• however, no obvious gross morphological malformations are noted in cochlea or hair cells up to P60 (J:124151)
• at >P90, cochlear hair cells appear to undergo degeneration (J:124151)
• however, no obvious gross morphological malformations are noted in cochlea or hair cells up to P60 (J:124151)

Mouse Models of Human Disease
OMIM ID Ref(s)
Dubin-Johnson Syndrome; DJS 237500 J:77485


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory