Analysis Tools|
Allele Symbol Allele Name Allele ID |
Ndptm1Wbrg targeted mutation 1, Wolfgang Berger MGI:2676199 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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N |
• 3, 8 and 12 weeks, female heterozygotes display no significant changes within the vitreous body and retinal layers relative to wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• hyperpigmentation of the retinal pigment epithelium is evident within severely affectes areas
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• at 4 and 26 weeks, a general disorganization of the ganglion cell layer is observed, with some nuclei migrating into the inner plexiform layer
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• 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
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• 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
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• the outer plexiform layer disappears in severely affected areas
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• relocation of nuclei from the inner nuclear layers into the photoreceptor layer leads to the disappearance of photoreceptors
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• the outer segments of the photoreceptor cells disappear within severely affected areas
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• 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
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• at 4 and 26 weeks, fibrous masses (retrolental patterns) are observed within the vitreous bodies of all eyes examined
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• hyperpigmentation of the retinal pigment epithelium is evident within severely affectes areas
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• relocation of nuclei from the inner nuclear layers into the photoreceptor layer leads to the disappearance of photoreceptors
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• the outer segments of the photoreceptor cells disappear within severely affected areas
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| exudative vitreoretinopathy | DOID:0050535 |
OMIM:PS133780 |
J:158585 | |
| Norrie disease | DOID:0060844 |
OMIM:310600 |
J:30902 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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• initial preservation of cochlear IHCs in all turns at 3 months, with eventual IHC loss by 15 months
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• gradual loss of outer hair cells becoming severe by 15 months, consistent with auditory threshold increases
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• in severe cases of stria vascularis degeneration, loss of fibrocytes in the adjacent spiral ligament by 15 months
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• at ~3 months, excessive numbers of cells in the strial intermediate cell layer in some areas of the basal turn
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• by 15 months, complete loss of marginal cells in some areas
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• in severe cases, almost complete degeneration of the stria vascularis by 15 months
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• 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
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• progressive hearing loss across all test frequencies, also noted on a 129/Sv background
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• hearing loss is initially more severe in the high frequencies but eventually progresses to a relatively flat, profound loss by 15 months
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• progressive hearing loss associated with a primary lesion in the stria vascularis
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• 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
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• 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
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• initial preservation of cochlear IHCs in all turns at 3 months, with eventual IHC loss by 15 months
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• gradual loss of outer hair cells becoming severe by 15 months, consistent with auditory threshold increases
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• although large vessels are not seen in spiral ganglion vasculature, a poorly developed capillary bed is observed at 3-4 months
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• slight neuronal loss at 6.5 months and significant spiral ganglion loss by 15 months
• innervation of adjacent vestibular organs remains intact
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• 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
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• at ~3 months, excessive numbers of cells in the strial intermediate cell layer in some areas of the basal turn
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N |
• no swimming impairment or behavioral signs indicative of vestibular defects, such as circling or head shaking
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• in severe cases of stria vascularis degeneration, loss of fibrocytes in the adjacent spiral ligament by 15 months
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Norrie disease | DOID:0060844 |
OMIM:310600 |
J:77024 | |
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 12/17/2024 MGI 6.24 |
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