Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb2tm1Ugds mutation
(3 available);
any
Gjb2 mutation
(21 available)
Tg(Sox10-cre)1Wdr mutation
(2 available)
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hearing/vestibular/ear
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• at 1 month of age, hair cells are partly degenerated and by 6 months, hair cells are absent
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• supporting cells in the auditory epithelium are seen in some areas but missing in others
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• cochleae display severe and rapid degeneration of the organ of Corti; degeneration is seen as early as 1 month of age and rapidly progresses from base to apex, such that by 6 months of age the auditory epithelium is flat throughout the cochlea
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• mice show ABR threshold shifts at 12, 16, and 24 kHz, indicating substantial hearing loss
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nervous system
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• at 1 month of age, hair cells are partly degenerated and by 6 months, hair cells are absent
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• spiral ganglion neuron degeneration that progresses from base to apex such that by 6 months of age, all cochlear turns show severe degeneration
• mice treated with an adenovirus expressing BDNF show preservation of the spiral ganglion neurons in the base region but does not rescue the organ of Corti degeneration
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo mutation
(10 available);
any
Gt(ROSA)26Sor mutation
(942 available)
Polr1aem1Knwea mutation
(0 available);
any
Polr1a mutation
(93 available)
Polr1atm1c(EUCOMM)Hmgu mutation
(0 available);
any
Polr1a mutation
(93 available)
Tg(Sox10-cre)1Wdr mutation
(2 available)
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craniofacial
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• median lip notches in some E14-E15 embryos
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• in some E14-E15 embryos
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• in some E14-E15 embryos
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digestive/alimentary system
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• in some E14-E15 embryos
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growth/size/body
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• median lip notches in some E14-E15 embryos
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• in some E14-E15 embryos
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• in some E14-E15 embryos
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo mutation
(10 available);
any
Gt(ROSA)26Sor mutation
(942 available)
Polr1atm1c(EUCOMM)Hmgu mutation
(0 available);
any
Polr1a mutation
(93 available)
Polr1atm1d(EUCOMM)Hmgu mutation
(0 available);
any
Polr1a mutation
(93 available)
Tg(Sox10-cre)1Wdr mutation
(2 available)
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cardiovascular system
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• normal outflow tract septation in E9.5 embryos
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craniofacial
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• mandibular cleft in E14-E17 embryos
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digestive/alimentary system
growth/size/body
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• mandibular cleft in E14-E17 embryos
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respiratory system
skeleton
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• mandibular cleft in E14-E17 embryos
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo mutation
(10 available);
any
Gt(ROSA)26Sor mutation
(942 available)
Polr1atm1a(EUCOMM)Hmgu mutation
(1 available);
any
Polr1a mutation
(93 available)
Polr1atm1c(EUCOMM)Hmgu mutation
(0 available);
any
Polr1a mutation
(93 available)
Tg(Sox10-cre)1Wdr mutation
(2 available)
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cardiovascular system
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• normal outflow tract septation in E9.5 embryos
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craniofacial
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• mandibular cleft in E14-E17 embryos
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digestive/alimentary system
growth/size/body
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• mandibular cleft in E14-E17 embryos
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respiratory system
skeleton
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• mandibular cleft in E14-E17 embryos
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smarca4tm1.2Pcn mutation
(1 available);
any
Smarca4 mutation
(109 available)
Tg(Sox10-cre)1Wdr mutation
(2 available)
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embryo
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• embryos show a striking reduction in the numbers of cranial and ventral trunk melanoblasts at E12.5
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nervous system
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• embryos show a striking reduction in the numbers of cranial and ventral trunk melanoblasts at E12.5
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb2tm1Ugds mutation
(3 available);
any
Gjb2 mutation
(21 available)
Tg(Sox10-cre)1Wdr mutation
(2 available)
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hearing/vestibular/ear
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• cochlear cultures fail to propagate calcium signals or release ATP following photostimulation with caged IP3 unlike wild-type cultures
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nervous system
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• cochlear cultures fail to propagate calcium signals or release ATP following photostimulation with caged IP3 unlike wild-type cultures
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bsndtm1Tjj mutation
(0 available);
any
Bsnd mutation
(16 available)
Tg(Sox10-cre)1Wdr mutation
(2 available)
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hearing/vestibular/ear
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• mice exhibit abnormal gain and phase of angular vestibulo ocular reflexes (VOR) in the dark compared to wild-type mice
• however, VORs in the light are normal
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• after 3 weeks, outer hair cells in the basal turn begin to degenerate
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• as the stria vascularis degenerates it loses the normal interdigitation of marginal and intermediate cells
• however, all cell types are retained
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• at 2 weeks, the width of the stria vascularis is reduced by 30% to 50% compared to in wild-type mice
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• at 3 weeks, mice exhibit hearing loss of about 60 dB as measured by auditory brainstem response that is less severe than in Slc12a2tm2Bhk homozygotes
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behavior/neurological
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• mice exhibit abnormal gain and phase of angular vestibulo ocular reflexes (VOR) in the dark compared to wild-type mice
• however, VORs in the light are normal
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nervous system
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• after 3 weeks, outer hair cells in the basal turn begin to degenerate
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kmt2dtm2.1Kaig mutation
(0 available);
any
Kmt2d mutation
(167 available)
Tg(Sox10-cre)1Wdr mutation
(2 available)
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craniofacial
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• cranial base phenotypes are identical to homozygous mice with recombination induced by the H2az2Tg(Wnt1-cre)11Rth allele except in some cases pups do have a small strip of presphenoid bone formation
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skeleton
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• cranial base phenotypes are identical to homozygous mice with recombination induced by the H2az2Tg(Wnt1-cre)11Rth allele except in some cases pups do have a small strip of presphenoid bone formation
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growth/size/body
respiratory system
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Sox10-cre)1Wdr mutation
(2 available)
Zfp276tm1c(EUCOMM)Hmgu mutation
(0 available);
any
Zfp276 mutation
(28 available)
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nervous system
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• mice show a transient delay in oligodendrocytes (OL) maturation and myelination: cells expressing Myrf protein (an OL maturity marker) in transverse spinal cord sections are reduced to 56% of controls at P7, with similar decreases noted in cells expressing myelin genes Mbp and Plp1 and Gstpi protein; at P30 only a slight reduction in Gstpi numbers is still observed, whereas no differences in all other differentiation markers and myelin genes are detected at P30 or P60
• however, overall numbers of Sox10+ oligodendroglial cells (OGCs), Pdgfra+ oligodendrocyte progenitor cells (OPCs), Gfap+ astrocytes, and Iba1+ microglia are not significantly changed in the spinal cord at P1-P60
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• cells expressing myelin genes Mbp and Plp1 and Gstpi protein are significantly reduced in transverse spinal cord sections at P7; however, only a slight reduction in Gstpi numbers is still observed at P30
• analyses of spinal cord white matter regions showed an increased g-ratio and a drastically reduced number of myelinated axons at P7 but not at P30, indicating a transient delay in the myelination of axons in early postnatal stages
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• mice show strongly reduced expression of myelin genes in the spinal cord at P7
• in vitro, RNA-Seq analyses of primary OGC cultures derived from P0-P3 forebrains show significant downregulation of myelination-related genes, consistent with the delayed oligodendrocyte differentiation and hypomyelination phenotype seen in vivo
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homeostasis/metabolism
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Sox10-cre)1Wdr mutation
(2 available)
Twsg1tm1Aptr mutation
(0 available);
any
Twsg1 mutation
(20 available)
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craniofacial
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• mice exhibit midline fusion of the frontonasal prominences compared with wild-type mice
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embryo
nervous system
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• mice exhibit non-septation of the telencephalic vesicles compared with wild-type mice
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo mutation
(10 available);
any
Gt(ROSA)26Sor mutation
(942 available)
Polr1atm1c(EUCOMM)Hmgu mutation
(0 available);
any
Polr1a mutation
(93 available)
Tg(Sox10-cre)1Wdr mutation
(2 available)
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cardiovascular system
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• normal outflow tract septation in E9.5 embryos
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craniofacial
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• mandibular cleft in E14-E17 embryos
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digestive/alimentary system
growth/size/body
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• mandibular cleft in E14-E17 embryos
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respiratory system
skeleton
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• mandibular cleft in E14-E17 embryos
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Analysis Tools