Analysis Tools
integument
| N |
• mutants do not develop hamartomas over a period of 300 days and epidermal thickness is normal at 8 weeks of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mutants do not develop hamartomas over a period of 300 days and epidermal thickness is normal at 8 weeks of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• expanded basal cell layers
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• development of skin lesions is delayed and severity is reduced compared to single Pten mutants
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• skin is thickened at 8 weeks of age, but to a lesser extent than in single Pten mutants
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• develop skin hamartomas with a median latency of 121 days
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• develop skin hamartomas with a median latency of 121 days
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• accumulation of terminally differentiated suprabasal cells
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• development of skin lesions is delayed and severity is reduced compared to single Pten mutants
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• skin is thickened at 8 weeks of age, but to a lesser extent than in single Pten mutants
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• develop skin hamartomas with a median latency of 131 days
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• develop skin hamartomas with a median latency of 131 days
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• marker analysis indicates a perturbed basal-to-suprabasal transition
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• expanded suprabasal layer as indicated by an increase in Keratin 10-postive cells
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• increase in the number of epidermal cell layers at 8 weeks of age
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• progressive development of multiple dermal lesions after weaning
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• at 8 weeks of age
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• multiple cutaneous hamartomas are seen all over the body within 12 weeks of age
• median onset of disease is 62 days
• mice treated with BKM120, a pan-class I PI3K inhibitor, beginning at 3 weeks of age, do not develop PTEN hamartoma tumor syndrome skin lesions; removal of BKM120 results in development of lesions, indicating that continuous treatment is required
• mice with advanced multiple skin hamartomas treated with BKM120 show improved skin conditions
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• papillomatous lesions around the facial orifices, ears, and paws, with most associated with hyperkeratosis
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• multiple cutaneous hamartomas are seen all over the body within 12 weeks of age
• median onset of disease is 62 days
• mice treated with BKM120, a pan-class I PI3K inhibitor, beginning at 3 weeks of age, do not develop PTEN hamartoma tumor syndrome skin lesions; removal of BKM120 results in development of lesions, indicating that continuous treatment is required
• mice with advanced multiple skin hamartomas treated with BKM120 show improved skin conditions
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• papillomatous lesions around the facial orifices, ears, and paws, with most associated with hyperkeratosis
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Cowden syndrome | DOID:6457 |
OMIM:PS158350 |
J:199362 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mammary progenitor cells exhibit impaired expansion compared to in wild-type mice
• however, mammary progenitor cell differentiation is normal
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• at 3 weeks, mice lack terminal end buds compared with wild-type mice
• at 6 weeks, ductal elongation is delayed compared to in wild-type mice
• at 9 weeks, mammary glands exhibit fewer branches and lateral buds compared to in wild-type mice
• however, mammary progenitor cell differentiation is normal
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• at 9 weeks, mammary glands exhibit fewer branches and lateral buds compared to in wild-type mice
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• in some newborn mice exhibit impaired mammary gland development compared with wild-type mice
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• during pregnancy and lactation, mice exhibit reduced alveolar formation compared with wild-type mice
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• during pregnancy and lactation, mice exhibit reduced alveolar formation compared with wild-type mice
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• mammary progenitor cells exhibit impaired expansion compared to in wild-type mice
• however, mammary progenitor cell differentiation is normal
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• at 3 weeks, mice lack terminal end buds compared with wild-type mice
• at 6 weeks, ductal elongation is delayed compared to in wild-type mice
• at 9 weeks, mammary glands exhibit fewer branches and lateral buds compared to in wild-type mice
• however, mammary progenitor cell differentiation is normal
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• at 9 weeks, mammary glands exhibit fewer branches and lateral buds compared to in wild-type mice
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• in some newborn mice exhibit impaired mammary gland development compared with wild-type mice
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• during pregnancy and lactation, mice exhibit reduced alveolar formation compared with wild-type mice
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• during pregnancy and lactation, mice exhibit reduced alveolar formation compared with wild-type mice
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• during pregnancy and lactation, mice exhibit reduced alveolar formation compared with wild-type mice
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• mammary progenitor cells exhibit impaired expansion compared to in wild-type mice
• however, mammary progenitor cell differentiation is normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• flattened surface
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• defective formation of tongue filiform papillae and the tongue barrier
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• flattened surface
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• defective formation of tongue filiform papillae and the tongue barrier
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• decreased sweat duct basal cell proliferation
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• flattened surface
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• defective formation of tongue filiform papillae and the tongue barrier
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit decreased survival compared to wild type mice
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• 36% of mice exhibit thoracic and abdominal/inguinal mammary gland tumors
• mammary gland tumors exhibit prominent intraluminal and ductal proliferation
• mammary gland tumors ranged from fibroadenomas to adenocarcinomas and ductal carcinomas with dense hyaline collagen or dense fibrosis
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• 36% of mice exhibit thoracic and abdominal/inguinal mammary gland tumors
• mammary gland tumors exhibit prominent intraluminal and ductal proliferation
• mammary gland tumors ranged from fibroadenomas to adenocarcinomas and ductal carcinomas with dense hyaline collagen or dense fibrosis
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• 36% of mice exhibit thoracic and abdominal/inguinal mammary gland tumors
• mammary gland tumors exhibit prominent intraluminal and ductal proliferation
• mammary gland tumors ranged from fibroadenomas to adenocarcinomas and ductal carcinomas with dense hyaline collagen or dense fibrosis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 40% of mice survive weaning if littermate competition is removed and the weaning period is extended
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• mice that survive weaning do not live beyond 250 days
• however, survival can be increased by treatment with rapamycin
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• mice die rapidly in the first few days of life
• however, lifespan can be increased if littermate competition is removed and the weaning period is extended
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• 11% of mice exhibit thoracic and abdominal/inguinal mammary gland tumors
• mammary gland tumors exhibit prominent intraluminal and ductal proliferation
• mammary gland tumors ranged from fibroadenomas to adenocarcinomas and ductal carcinomas with dense hyaline collagen or dense fibrosis
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• 12% of mice develop thyroid tumors with a follicular aspect
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• mice develop multiple hyperproliferative skin lesions that range from mucocutaneous lesions to tumor formation
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• mice develop papules around the nose, mouth and eyes
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• 56% of mice develop multinodular goiters
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• in 80% of mice
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• 11% of mice exhibit thoracic and abdominal/inguinal mammary gland tumors
• mammary gland tumors exhibit prominent intraluminal and ductal proliferation
• mammary gland tumors ranged from fibroadenomas to adenocarcinomas and ductal carcinomas with dense hyaline collagen or dense fibrosis
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• 12% of mice develop thyroid tumors with a follicular aspect
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• in 80% of mice
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• 11% of mice exhibit thoracic and abdominal/inguinal mammary gland tumors
• mammary gland tumors exhibit prominent intraluminal and ductal proliferation
• mammary gland tumors ranged from fibroadenomas to adenocarcinomas and ductal carcinomas with dense hyaline collagen or dense fibrosis
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• at 11 days, the hair shafts have a disheveled appearance unlike in heterozygous mice
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• hair follicles are increased in size compared to in wild type mice
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• facial and periauricular lesions involve hyperproliferation of the outer root sheath in the vibrissae
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• papillomatous lesions of the skin exhibit hyperkeratosis and acanthosis through the face and body skin
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• papillomatous lesions of the skin exhibit hyperkeratosis and acanthosis through the face and body skin
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• at 6 days of age
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• mice develop multiple hyperproliferative skin lesions that range from mucocutaneous lesions to tumor formation
• facial and periauricular lesions involve hyperproliferation of the outer root sheath and vibrissae
• acral extremities areas exhibit verrucous and hyperkeratotic lesions also seen in the punctuate palmoplantar keratosis of the paws
• mice exhibit palmoplantar keratoses, acral keratosis and oral papules
• cutaneous lesions contain trichilemmomas
• however, rapamycin treatment reverses and prevents lesion formation
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• at 6 days of age
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• mice develop multiple hyperproliferative skin lesions that range from mucocutaneous lesions to tumor formation
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• mice develop papules around the nose, mouth and eyes
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Cowden syndrome | DOID:6457 |
OMIM:PS158350 |
J:138927 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• bone density is normal
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• molar cusp defects
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• molar root defects
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• ectopic M4 molars
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• molar cusp defects
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• molar root defects
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• ectopic M4 molars
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• molar cusp defects
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• molar root defects
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• ectopic M4 molars
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at P15 and P18
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• at P15 and P18
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• at P12, mice exhibit defects in the hair shaft
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• beginning at P5, mice exhibit abnormal hair follicles
• hair follicles undergo epidermalization unlike in wild-type mice
• at P12, mice exhibit defects in the inner root sheath with continued proliferation of outer root sheath cells in catagen and telogen unlike in wild-type mice
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• at P9, follicles have not develop hair bulbs and exhibit abnormal undifferentiated shafts with no keratinized medulla unlike in wild-type mice
• at P18, mice fail to exhibit upward movement of the hair shaft and formation of the club structure in the upper hair bulb as in wild-type mice
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• by telogen phase P20, hair follicles undergo regression and fail to re-initiate the hair cycle as in wild type mice
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• at P15, P18 and P26, proliferation of hair follicle cells is increased compared to in wild-type mice
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• the dermis is thickened and hypercellular compared to in wild-type mice
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• at P15 and P18, utricles develop in the epidermis unlike in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• flattened surface
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• flattened surface
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• regression of sweat glands when treated with doxycycline at P20
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• when treated with doxycycline at P20
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• flattened surface
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• regression of sweat glands when treated with doxycycline at P20
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• when treated with doxycycline at P20
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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 04/16/2024 MGI 6.23 |
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