Analysis Tools|
Allele Symbol Allele Name Allele ID |
Nf1Mhdadsk9 Martin Hrabe de Angelis dark skin 9 MGI:2682223 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• black pigmentation of the ears
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• excess pigment in a uniform and slanted stripe prominent over the volar pad at the base of the first digit; bluish-gray in color
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• black pigmentation of the tail
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• black pigmentation of the ears
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• excess pigment in a uniform and slanted stripe prominent over the volar pad at the base of the first digit; bluish-gray in color
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• black pigmentation of the tail
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• dark pigmentation of the tongue
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• dark pigmentation of the tongue
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• black pigmentation of the ears
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• black pigmentation of the ears
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• excess pigment in a uniform and slanted stripe prominent over the volar pad at the base of the first digit; bluish-gray in color
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• black pigmentation of the tail
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• dark pigmentation of the tongue
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• black pigmentation of the ears
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• males exhibit disorganization of the seminiferous epithelium, with exfoliation of germ cells and immature spermatids into the tubule lumen
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• males exhibit exfoliation of spermatocytes and immature (round and elongating) spermatids into the seminiferous tubule lumen, suggesting altered Sertoli-spermatocyte and Sertoli-spermatid junctions
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• all males show mild to moderate degeneration of seminiferous tubules, unlike wild-type control males
• mild alterations include detachment of the germinal epithelium from the basal lamina, vacuolation, and atypical residual bodies
• moderate alterations include disorganization of the seminiferous epithelium, with exfoliation of germ cells and immature spermatids into the lumen
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• Leydig cell number is significantly lower than that in wild-type control males with no significant increase in interstitial space
• however, Sertoli cell number is relatively normal
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• testicular volume is significantly higher than that in wild-type control males
• however, seminiferous tubule area is relatively normal
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• caudal epididymal sperm counts are significantly higher than those of wild-type control males
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• males exhibit abnormal spermatids with enlarged heads, suggesting altered junctional dynamics
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• males exhibit abnormal spermatid morphology with enlarged heads and atypical residual bodies, suggesting lower sperm quality
• the number of immature (round or elongated) spermatids is significantly higher than that in wild-type control males
• however, the total number of germ cells is relatively normal
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• males exhibit abnormal spermatid morphology associated with alterations in spermiation
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• when heterozygous males are crossed to wild-type females, the average litter size is ~50% lower than that produced from wild-type males crossed to heterozygous females (4.00 +/- 1.2 versus 8.67 +/- 0.76)
• however, the number of days between litters is not significantly altered
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• males are able to reproduce but exhibit significantly fewer pups per litter than wild-type control males
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• males exhibit disorganization of the seminiferous epithelium, with exfoliation of germ cells and immature spermatids into the tubule lumen
|
|
|
• males exhibit exfoliation of spermatocytes and immature (round and elongating) spermatids into the seminiferous tubule lumen, suggesting altered Sertoli-spermatocyte and Sertoli-spermatid junctions
|
|
|
• all males show mild to moderate degeneration of seminiferous tubules, unlike wild-type control males
• mild alterations include detachment of the germinal epithelium from the basal lamina, vacuolation, and atypical residual bodies
• moderate alterations include disorganization of the seminiferous epithelium, with exfoliation of germ cells and immature spermatids into the lumen
|
|
|
• Leydig cell number is significantly lower than that in wild-type control males with no significant increase in interstitial space
• however, Sertoli cell number is relatively normal
|
|
|
• testicular volume is significantly higher than that in wild-type control males
• however, seminiferous tubule area is relatively normal
|
|
|
• males exhibit abnormal spermatids with enlarged heads, suggesting altered junctional dynamics
|
|
|
• males exhibit abnormal spermatid morphology with enlarged heads and atypical residual bodies, suggesting lower sperm quality
• the number of immature (round or elongated) spermatids is significantly higher than that in wild-type control males
• however, the total number of germ cells is relatively normal
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neurofibromatosis 1 | DOID:0111253 |
OMIM:162200 |
J:269534 | |
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 11/05/2024 MGI 6.24 |
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