Analysis Tools|
Allele Symbol Allele Name Allele ID |
Krt17tm1Cou targeted mutation 1, Pierre A Coulombe MGI:2651542 |
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| Summary |
4 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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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• aggregates of melanin pigment at points along follicle
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• in some follicles, epithelial cells of matrix in hair bulbs undergo massive destruction by apoptosis
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• a subset of mutants initially fail to develop a full coat of hair
• hair phenotype improves after 3 weeks of age with recovery "peaking" at 30 days
• recovery corresponds to first postnatal anagen phase of hair cycle
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• hair is fragile with breaks in the hair shaft
• hairs are 3-fold more likely to break when pulled than controls
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• breaks or ruptures of hair shaft above bulb region
• hair prone to breaking
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• cell lysis and pyknotic nuclei within the lower medulla in a subset of hair follicles
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• cellular degeneration seen in all compartments of follicles and follicle length is slightly shorter
• ovoid bodies composed of multiple eosinophilic matrix epithelial cells found on the posterior aspect of some hair bulbs
• follicular alterations increase from 3 to 10 days of age
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• aggregates of melanin pigment at points along follicle
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• in some follicles, epithelial cells of matrix in hair bulbs undergo massive destruction by apoptosis
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• severe cases exhibit degenerating hair follicles that coexist with normal follicles
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• often missing on either side of the nose in mutants with severe alopecia
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• individual hair follicles are often at different phases of their cycle in 31 day old mutants, indicating impaired progression through the hair cycle
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• in some follicles, epithelial cells of matrix in hair bulbs undergo massive destruction by apoptosis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• triple homozygotes usually die between the first and fourth day after birth
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• severe lysis and inflammatory changes in the epithelium of the upper palate
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• dorsal tongue epithelium destroyed at birth
• severe lysis and inflammatory changes
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• severe lysis and inflammatory changes in the epithelium of the upper palate
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• dorsal tongue epithelium destroyed at birth
• severe lysis and inflammatory changes
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• cell lysis in the nail bed affecting the lowermost suprabasal layers of the epithelium
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• severe lysis and inflammatory changes in the epithelium of the upper palate
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• dorsal tongue epithelium destroyed at birth
• severe lysis and inflammatory changes
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| pachyonychia congenita | DOID:0050449 |
OMIM:PS167200 |
J:95390 | |
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 09/30/2025 MGI 6.24 |
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