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Allele Symbol Allele Name Allele ID |
Ptentm1Rps targeted mutation 1, Ramon Parsons MGI:2151804 |
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| Summary |
15 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• lethality occurs after implantation but prior to gestation, between E6.5 and E9.5
• at E6.5, abnormal embryos appear to undergo a process of resorption
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• embryos appear disorganized at E6.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 12 week old females do not show preference for spending more time in the social chamber versus nonsocial chamber as wild-type mice do and spend equal time in both chambers, indicating impaired social approach behavior in females but not males
• while 8 week old males do not show a change in preference for social interaction for the first trial, upon reexposure to the same social target in trial 2, males do not show attenuation of preference for social investigation between the first and second trials as seen in wild-type mice
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• both males and females show deficits in prepulse inhibition of the acoustic startle response
• however, mice respond to the olfactory-habituation-dishabituation test normally, indicating normal olfactory function
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• macrocephaly in both males and females
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• males switch between behaviors less often than wild-type mice but spend the same amount of time performing active behaviors
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• males are involved in less attacking, both delivered to and received from the intruder male which is reflected in decreased agonistic behavior indicating reduced aggression
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• males preform more digging than wild-type mice
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• males show less social investigation, particularly of the anogenital region and approach and/or attend to the intruder less than wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autism spectrum disorder | DOID:0060041 | J:235927 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 6 months of age, high-grade prostatic intraepithelial neoplasia/early carcinoma lesions are seen in 10% of prostates and by 12 months of age, 34% of prostates are still lesion-free
• lesions show absence of Nkx3-1 protein expression
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• prostates exhibit localized regions of severely dysplastic epithelium at 6 months of age
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• at 6 months of age, high-grade prostatic intraepithelial neoplasia/early carcinoma lesions are seen in 10% of prostates and by 12 months of age, 34% of prostates are still lesion-free
• lesions show absence of Nkx3-1 protein expression
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• prostates exhibit localized regions of severely dysplastic epithelium at 6 months of age
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• at 6 months of age, high-grade prostatic intraepithelial neoplasia/early carcinoma lesions are seen in 10% of prostates and by 12 months of age, 34% of prostates are still lesion-free
• lesions show absence of Nkx3-1 protein expression
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Gut polyps and lymphoid hyperplasia in Ptentm1Rps/Pten+ mice
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• about 12% of older mice ranging in age from 20-56 weeks die or were sacrificed due to morbidity
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• neoplasms in multiple organs including the endometrium, liver, prostate, gastrointestinal tract, thyroid, and thymus
• tumors of the gastrointestinal epithelium develop in association with gut lymphoid tissue
• tumors of the endometrium, thyroid, prostate, and liver are not associated with lymphoid tissue and appear highly mitotic
• the tumors that cause morbidity include lymphomas, synchronous thyroid carcinoma, liver adenoma, poorly differentiated leukemia and teratoma
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• 3 of 8 males at 6-22 weeks of age display prostatic intraepithelial neoplasia; an additional 3 mice have foci of benign epithelial hyperplasia in the prostate
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• thyroid carcinoma
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• poorly differentiated leukemia
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• lymphomas develop in 7 of 256 mice that were clinically sick
• all mutants that develop lymphoma display diffuse microscopic infiltration of all organs by atypical immature lymphoid cells
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• intestinal polyps are seen in all mutants from 7 to 18 weeks of age; multiple polyps frequently cluster within a single region
• most polyps are lymphoid polyps with normal epithelium; the second most frequent type of polyp is lymphoid polyps with epithelial hyperplasia
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• 5 of the 7 mutants that develop lymphoma have an enlarged thymus
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• 3 of 20 mutants at 6-22 weeks of age display follicular or papillary noninvasive neoplasia of the thyroid and an additional 3 mice have atypical epithelial changes in the thyroid
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• 3 of 8 males at 6-22 weeks of age display prostatic intraepithelial neoplasia; an additional 3 mice have foci of benign epithelial hyperplasia in the prostate
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• thyroid carcinoma
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• 5 of the 7 mutants that develop lymphoma have an enlarged thymus
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• all mutants that develop lymphoma have splenomegaly
• by 50 weeks of age, all females and 45% of males have splenomegaly
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• 5 of the 7 mutants that develop lymphoma have an enlarged thymus
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• all mutants that develop lymphoma have splenomegaly
• by 50 weeks of age, all females and 45% of males have splenomegaly
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• in the hyperplastic lymph nodes and aggregates, follicular organization is blurred with mixing of the B and T cell regions
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• neoplastic hyperplasia of lymph nodes caused by a defect in apoptosis in B cells and macrophages
• expansion of the interfollicular areas, medullary cords, and residual follicular and paracortical hyperplasia composed of B, T, macrophage, and fibroblast cells
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• 3 of 8 males at 6-22 weeks of age display prostatic intraepithelial neoplasia; an additional 3 mice have foci of benign epithelial hyperplasia in the prostate
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• 100% of females aged 18-39 weeks display multifocal endometrial complex atypical hyperplasia, a lesion that is a precursor of endometrial carcinoma
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• all mutants that develop lymphoma have splenomegaly
• by 50 weeks of age, all females and 45% of males have splenomegaly
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Bannayan-Riley-Ruvalcaba syndrome | DOID:0050657 |
OMIM:158350 |
J:53065 | |
| Cowden syndrome | DOID:6457 |
OMIM:PS158350 |
J:53065 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• following 4-hydroxytamoxifen (4-OHT) application, all mice develop melanoma over a 9 month period unlike wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• following 4-hydroxytamoxifen (4-OHT) application, all mice develop melanoma over a 9 month period unlike wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 8 week old females show a significant decrease in preference for interacting with a stimulus mouse in a social approach assay, with mice spending significantly less time interacting with the stimulus mouse than in wild-type mice or either single heterozygote, indicating impaired social approach behavior in females
• while 8 week old males do not show a change in preference for social interaction for the first trial, upon reexposure to the same social target in trial 2, males do not show attenuation of preference for social investigation between the first and second trials as seen in wild-type mice, indicating impaired social recognition in males
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• deficits in prepulse inhibition of the acoustic startle response indicate impaired sensorimotor gating
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• mice show deficits in prepulse inhibition of the acoustic startle response to a similar level as single Pten heterozygotes
• however, mice respond to the olfactory-habituation-dishabituation test normally, indicating normal olfactory function
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• macrocephaly that is more severe than in either single heterozygote
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autism spectrum disorder | DOID:0060041 | J:144937 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• double mutants tend to live longer than single heterozygous Pten mice
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• prostates exhibit signs of hyperplasia but lesions are less severe than in single heterozygous Pten mice
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• prostates exhibit signs of hyperplasia but lesions are less severe than in single heterozygous Pten mice
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• mutants are protected from prostate cancer development: only 1 of 10 double mutants developed a tumor compared to 5 of 9 single heterozygous Pten mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
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• early carcinoma lesions are seen in the prostate at 6 months of age
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• at 6 months of age, high-grade prostatic intraepithelial neoplasia/early carcinoma lesions are seen in 36% of prostates, and by 12 months, all mice show lesions
• multifocal lesions in the prostate are comprised of poorly differentiated cells with prominent and multiple nucleoli, an increased nuclear/cytoplasmic ratio, and frequent mitotic figures
• lesions usually fill the affected prostatic ducts and are highly vascularized, show an increase in cytokeratins, an absence of basal epithelium, and a high proliferative index
• lesions show absence of Nkx3-1 protein expression, although mRNA is present and allelic loss of Pten
|
|
|
• early carcinoma lesions are seen in the prostate at 6 months of age
|
|
|
• at 6 months of age, high-grade prostatic intraepithelial neoplasia/early carcinoma lesions are seen in 36% of prostates, and by 12 months, all mice show lesions
• multifocal lesions in the prostate are comprised of poorly differentiated cells with prominent and multiple nucleoli, an increased nuclear/cytoplasmic ratio, and frequent mitotic figures
• lesions usually fill the affected prostatic ducts and are highly vascularized, show an increase in cytokeratins, an absence of basal epithelium, and a high proliferative index
• lesions show absence of Nkx3-1 protein expression, although mRNA is present and allelic loss of Pten
|
|
|
• early carcinoma lesions are seen in the prostate at 6 months of age
|
|
|
• at 6 months of age, high-grade prostatic intraepithelial neoplasia/early carcinoma lesions are seen in 36% of prostates, and by 12 months, all mice show lesions
• multifocal lesions in the prostate are comprised of poorly differentiated cells with prominent and multiple nucleoli, an increased nuclear/cytoplasmic ratio, and frequent mitotic figures
• lesions usually fill the affected prostatic ducts and are highly vascularized, show an increase in cytokeratins, an absence of basal epithelium, and a high proliferative index
• lesions show absence of Nkx3-1 protein expression, although mRNA is present and allelic loss of Pten
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| prostate cancer | DOID:10283 |
OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 |
J:75085 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• early carcinoma lesions are seen in the prostate at 6 months of age
|
|
|
• at 6 months of age, high-grade prostatic intraepithelial neoplasia /early carcinoma lesions are seen in 60% of prostates and by 10 months of age, all mice show lesions
• multifocal lesions are comprised of poorly differentiated cells with prominent and multiple nucleoli, an increased nuclear/cytoplasmic ratio, and frequent mitotic figures
• lesions usually fill the affected prostatic ducts and are highly vascularized, show an increase in cytokeratins, an absence of basal epithelium, and a high proliferative index
• lesions show absence of Nkx3-1 protein expression, although mRNA is present and allelic loss of Pten
|
|
|
• early carcinoma lesions are seen in the prostate at 6 months of age
|
|
|
• at 6 months of age, high-grade prostatic intraepithelial neoplasia /early carcinoma lesions are seen in 60% of prostates and by 10 months of age, all mice show lesions
• multifocal lesions are comprised of poorly differentiated cells with prominent and multiple nucleoli, an increased nuclear/cytoplasmic ratio, and frequent mitotic figures
• lesions usually fill the affected prostatic ducts and are highly vascularized, show an increase in cytokeratins, an absence of basal epithelium, and a high proliferative index
• lesions show absence of Nkx3-1 protein expression, although mRNA is present and allelic loss of Pten
|
|
|
• early carcinoma lesions are seen in the prostate at 6 months of age
|
|
|
• at 6 months of age, high-grade prostatic intraepithelial neoplasia /early carcinoma lesions are seen in 60% of prostates and by 10 months of age, all mice show lesions
• multifocal lesions are comprised of poorly differentiated cells with prominent and multiple nucleoli, an increased nuclear/cytoplasmic ratio, and frequent mitotic figures
• lesions usually fill the affected prostatic ducts and are highly vascularized, show an increase in cytokeratins, an absence of basal epithelium, and a high proliferative index
• lesions show absence of Nkx3-1 protein expression, although mRNA is present and allelic loss of Pten
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| prostate cancer | DOID:10283 |
OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 |
J:75085 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• double mutants live longer than single heterozygous Pten mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• double mutants live longer than single heterozygous Pten mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 50% of females develop mammary ductal carcinoma by 3.5 months of age, earlier than single Tg(Wnt1)1Hev hemizygotes, and all females show tumors by 5 months of age
• 2 of 22 tumors in males are mammary in origin
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• mutants occasionally show pulmonary metastasis
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• tumors are adenocarcinomas with cribiform, cystic and focal papillary growth patterns
• 50% of males develop tumors by 5.5 months and all males develop tumors within 10 months
• 50% of females develop tumors by 3.5 months of age and all females have tumors within 5 months of age
• 6 of 22 tumors in males are bilateral or unilateral muzzle tumors of epithelial origin
• 7 or 11 tumors show loss of Pten heterozygosity
• most mutants (38 of 49) develop only one palpable tumor
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• 14 of 22 tumors in males arise in the salivary tissue
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• 14 of 22 tumors in males arise in the salivary tissue
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• 50% of females develop mammary ductal carcinoma by 3.5 months of age, earlier than single Tg(Wnt1)1Hev hemizygotes, and all females show tumors by 5 months of age
• 2 of 22 tumors in males are mammary in origin
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• 50% of females develop mammary ductal carcinoma by 3.5 months of age, earlier than single Tg(Wnt1)1Hev hemizygotes, and all females show tumors by 5 months of age
• 2 of 22 tumors in males are mammary in origin
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• 14 of 22 tumors in males arise in the salivary tissue
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| breast cancer | DOID:1612 |
OMIM:114480 |
J:67497 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mutants exhibit a similar lifespan as single heterozygous Pten mice
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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 04/23/2024 MGI 6.23 |
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