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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ndptm1Wbrg
targeted mutation 1, Wolfgang Berger
MGI:2676199
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ndptm1Wbrg/Ndptm1Wbrg involves: 129P2/OlaHsd * C57BL/6 MGI:4361744
ht2
Ndptm1Wbrg/Ndp+ involves: 129P2/OlaHsd * C57BL/6 MGI:2676263
ot3
Ndptm1Wbrg/Y involves: 129/Sv * 129P2/OlaHsd * C57BL/6 * CBA/CaJ * CD-1 MGI:3695277
ot4
Ndptm1Wbrg/Y involves: 129P2/OlaHsd * C57BL/6 MGI:2676253


Genotype
MGI:4361744
hm1
Allelic
Composition
Ndptm1Wbrg/Ndptm1Wbrg
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndptm1Wbrg mutation (0 available); any Ndp mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• despite expression in the mouse ovary, ovaries from adult 8-wk-old female homozygotes show an abundance of corpora lutea, unlike that observed in 8-wk-old Fzd4tm1Nat homozygotes
• moreover, mutant corpora lutea are immunopositive for a steroidogenic marker found in the cytoplasm of luteal cells, suggesting that they are functional




Genotype
MGI:2676263
ht2
Allelic
Composition
Ndptm1Wbrg/Ndp+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndptm1Wbrg mutation (0 available); any Ndp mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• 3, 8 and 12 weeks, female heterozygotes display no significant changes within the vitreous body and retinal layers relative to wild-type mice




Genotype
MGI:3695277
ot3
Allelic
Composition
Ndptm1Wbrg/Y
Genetic
Background
involves: 129/Sv * 129P2/OlaHsd * C57BL/6 * CBA/CaJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndptm1Wbrg mutation (0 available); any Ndp mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• at 3 months (but not at P12), enlarged vessels are observed in the stria vascularis, particularly in the apex of the cochlea
• age-related loss of larger strial vessels, possibly due to a more general loss of vessels
• general disorganization of blood vessels and lack of a well developed capillary bed, esp. in the apex
• approximately two-thirds of strial vessels are lost by 15 months
• initial preservation of cochlear IHCs in all turns at 3 months, with eventual IHC loss by 15 months
• gradual loss of outer hair cells becoming severe by 15 months, consistent with auditory threshold increases
• in severe cases of stria vascularis degeneration, loss of fibrocytes in the adjacent spiral ligament by 15 months
• at ~3 months, excessive numbers of cells in the strial intermediate cell layer in some areas of the basal turn
• by 15 months, complete loss of marginal cells in some areas
• in severe cases, almost complete degeneration of the stria vascularis by 15 months
• ABRs recorded at 3-4 months, 6-8 months, and 13-15 months indicate elevated thresholds at all test frequencies, with a slightly higher hearing loss at higher frequencies
• progressive hearing loss across all test frequencies, also noted on a 129/Sv background
• hearing loss is initially more severe in the high frequencies but eventually progresses to a relatively flat, profound loss by 15 months
• progressive hearing loss associated with a primary lesion in the stria vascularis

cardiovascular system
• lack of a well developed fine capillary network in both the inner and outer retina layers at 13 months
• absence of any vascular development in the outer retina at 13 months
• at 3 months (but not at P12), enlarged vessels are observed in the stria vascularis, particularly in the apex of the cochlea
• age-related loss of larger strial vessels, possibly due to a more general loss of vessels
• general disorganization of blood vessels and lack of a well developed capillary bed, esp. in the apex
• approximately two-thirds of strial vessels are lost by 15 months

nervous system
• initial preservation of cochlear IHCs in all turns at 3 months, with eventual IHC loss by 15 months
• gradual loss of outer hair cells becoming severe by 15 months, consistent with auditory threshold increases
• although large vessels are not seen in spiral ganglion vasculature, a poorly developed capillary bed is observed at 3-4 months
• slight neuronal loss at 6.5 months and significant spiral ganglion loss by 15 months
• innervation of adjacent vestibular organs remains intact

vision/eye
• lack of a well developed fine capillary network in both the inner and outer retina layers at 13 months
• absence of any vascular development in the outer retina at 13 months

pigmentation
• at ~3 months, excessive numbers of cells in the strial intermediate cell layer in some areas of the basal turn

behavior/neurological
N
• no swimming impairment or behavioral signs indicative of vestibular defects, such as circling or head shaking

skeleton
• in severe cases of stria vascularis degeneration, loss of fibrocytes in the adjacent spiral ligament by 15 months

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Norrie disease DOID:0060844 OMIM:310600
J:77024




Genotype
MGI:2676253
ot4
Allelic
Composition
Ndptm1Wbrg/Y
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndptm1Wbrg mutation (0 available); any Ndp mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• hyperpigmentation of the retinal pigment epithelium is evident within severely affectes areas
• at 4 and 26 weeks, a general disorganization of the ganglion cell layer is observed, with some nuclei migrating into the inner plexiform layer
• at 4 and 26 weeks, occasional changes in the inner nuclear layers are observed
• nuclei from the inner nuclear layer are occasionally displaced into the photoreceptor layer
• even when inner nuclear and photoreceptor layers are only mildly affected, the changes within the vitreous body and the ganglion cell layer are prominent
• at 4 and 26 weeks, occasional changes in the outer nuclear layers are observed
• nuclei from the outer nuclear layer are occasionally displaced into the outer plexiform and the inner nuclear layer
• the outer plexiform layer disappears in severely affected areas
• relocation of nuclei from the inner nuclear layers into the photoreceptor layer leads to the disappearance of photoreceptors
• the outer segments of the photoreceptor cells disappear within severely affected areas
• at 3 weeks, 3 of 6 male hemizygotes exhibit conspicuous precipitate-like retrolental structures in the vitreous body; the variation in number and size of precipitates is age-independent
• by 10-20 weeks, all male hemizygotes show pathological signs with a variable age of onset
• in addition to the precipitates, depigmented bundles or stripes are noted in some eyes and interpreted as retinal folding or detachment
• at 4 and 26 weeks, fibrous masses (retrolental patterns) are observed within the vitreous bodies of all eyes examined

pigmentation
• hyperpigmentation of the retinal pigment epithelium is evident within severely affectes areas

nervous system
• relocation of nuclei from the inner nuclear layers into the photoreceptor layer leads to the disappearance of photoreceptors
• the outer segments of the photoreceptor cells disappear within severely affected areas

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
exudative vitreoretinopathy DOID:0050535 J:158585
Norrie disease DOID:0060844 OMIM:310600
J:30902





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
12/03/2019
MGI 6.14
The Jackson Laboratory