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Allele Symbol Allele Name Allele ID |
Pigatm1Tak targeted mutation 1, Junji Takeda MGI:2386120 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• eggs are severely deficient in their ability to fuse with sperm
• multiple sperm can enter perivitelline space without initiating a block to polyspermy
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• sperm-egg fusion is blocked
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• females exhibit a slight acanthosis compared to wild-type
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• scaly skin appears in females at about 4 days after birth
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Epidermal morphology of wild type and Pigatm1Tak/Y Tg(KRT5-cre)1Tak mice
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• males die at 1-3 days after birth
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• total free amino acid content is reduced in the stratum corneum and the distribution of amino acids in the stratum corneum is altered, with decreased levels of arginine, glycine, histidine, and serine
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• high-frequency, skin-surface conductance is lower indicating reduced stratum corneum hydration
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• mice show an increase in transepidermal water loss across skin explants
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• mice show an increase in transepidermal water loss across skin explants
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• epidermal horny layer is tightly packed and thickened
(J:41746)
• electron microscopy of the horny layer shows narrow intercellular spaces embedded with small vesicles, not found in wild-type mice
(J:41746)
• total free amino acid content is reduced in the stratum corneum and the distribution of amino acids in the stratum corneum is altered, with decreased levels of arginine, glycine, histidine, and serine
(J:91794)
• however, structure of corneocytes, including the cornified envelope, is normal
(J:91794)
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• lamellar membrane structures in stratum corneum are shortened, distorted, and replaced by incompletely processed, lamellar body-derived materials
• most lamellar bodies in the stratum granulosum layer of the epidermis display abnormalities in size and/or internal contents, indicating an abnormality in lamellar body formation
• however, overall numbers of lamellar bodies appear normal
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive congenital ichthyosis 4B | DOID:0060713 |
OMIM:242500 |
J:91794 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show an increase in transepidermal water loss across skin explants
|
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• total free amino acid content is reduced in the stratum corneum and the distribution of amino acids in the stratum corneum is altered, with decreased levels of arginine, glycine, histidine, and serine
• however, structure of corneocytes, including the cornified envelope, is normal
|
|
|
• lamellar membrane structures in stratum corneum are shortened, distorted, and replaced by incompletely processed, lamellar body-derived materials
• most lamellar bodies in the stratum granulosum layer of the epidermis display abnormalities in size and/or internal contents, indicating an abnormality in lamellar body formation
• however, overall numbers of lamellar bodies appear normal
|
|
|
• total free amino acid content is reduced in the stratum corneum and the distribution of amino acids in the stratum corneum is altered, with decreased levels of arginine, glycine, histidine, and serine
|
|
|
• high-frequency, skin-surface conductance is lower indicating reduced stratum corneum hydration
|
|
|
• mice show an increase in transepidermal water loss across skin explants
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive congenital ichthyosis 4B | DOID:0060713 |
OMIM:242500 |
J:91794 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show the appearance of clonally-restricted, inactive yet functionally competent CD8 T cells, with an enrichment of CD8 T cells that lack glycosyl phosphatidylinositol (GPI) and GPI-anchored proteins in the blood, marrow, and spleen and enrichment of GPI- CD4 T cells in the spleen, and with pronounced Vbeta5.1/5.2 skewing of GPI- T cells
• however, mice do not show bone marrow failure, autoimmunity, or hemoglobinuria despite reduced immunosuppressive Treg cells
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• the proportion of CD4+CD25+FoxP3+ regulatory T cells is lower in peripheral blood
• however, there are no differences in the proportion of natural killer T cells in peripheral blood
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• mice exhibit fewer GPI- gamma-interferon producing CD8 T and CD4 T cells after lectin stimulation with myristate acetate and ionomycin
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• marker analysis indicates that the enlarged pool of GPI- CD8 T cells is less activated than normal T cells
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• mice show the appearance of clonally-restricted, inactive yet functionally competent CD8 T cells, with an enrichment of CD8 T cells that lack glycosyl phosphatidylinositol (GPI) and GPI-anchored proteins in the blood, marrow, and spleen and enrichment of GPI- CD4 T cells in the spleen, and with pronounced Vbeta5.1/5.2 skewing of GPI- T cells
• however, mice do not show bone marrow failure, autoimmunity, or hemoglobinuria despite reduced immunosuppressive Treg cells
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• the proportion of CD4+CD25+FoxP3+ regulatory T cells is lower in peripheral blood
• however, there are no differences in the proportion of natural killer T cells in peripheral blood
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• mice exhibit fewer GPI- gamma-interferon producing CD8 T and CD4 T cells after lectin stimulation with myristate acetate and ionomycin
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• marker analysis indicates that the enlarged pool of GPI- CD8 T cells is less activated than normal T cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at age E16.6
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• at age E15.5-16.6
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• at age E15.5-16.6
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• at age E16.6
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• at age E15.5-16.6
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• at age E15.5-16.6
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• at age E15.5-16.6
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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 08/02/2024 MGI 6.24 |
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