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Allele Symbol Allele Name Allele ID |
Brca1tm2Cxd targeted mutation 2, Chu-Xia Deng MGI:1931238 |
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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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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• chromosomal damage induced by PARP-inhibition is rescued compared to in cells from Brca1tm2Cxd/Brca1tm2Cxd Cd19tm1(cre)Cgn/Cd19+ mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• cells treated with PARP-inhibition exhibit increased chromosomal damage compared with wild-type cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• accelerated tumor associated mortality relative to control mice
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• mice develop breast tumors similar to control mice
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• liver metastases observed in 3/5 mice as compared to 0/7 relative to control mice
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• liver metastases observed in 3/5 mice as compared to 0/7 relative to control mice
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• mice develop breast tumors similar to control mice
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• mice develop breast tumors similar to control mice
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• liver metastases observed in 3/5 mice as compared to 0/7 relative to control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• by 6-8 months of age, 8 of 11 females developed mammary gland tumors that exhibited several distinct histopathologies
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• by 6-8 months of age, 8 of 11 females developed mammary gland tumors that exhibited several distinct histopathologies
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• by 6-8 months of age, 8 of 11 females developed mammary gland tumors that exhibited several distinct histopathologies
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| breast cancer | DOID:1612 |
OMIM:114480 |
J:54533 | |
| hereditary breast ovarian cancer syndrome | DOID:5683 | J:54533 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• mutants exhibit increased mammary epithelial cellular proliferation compared to controls when treated with exogenous estrogen
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• mutants exposed to estrogen exhibit an increase in the number of hyperplastic alveolar nodules per mammary gland compared to mutants with wild-type Trp53 and also an increase in the percentage of mice with hyperplastic alveolar nodules
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• 25% of mutants develop invasive mammary cancer when exposed to exogenous estrogen
• cancers are Esr1-negative
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• 25% of mutants develop invasive mammary cancer when exposed to exogenous estrogen
• cancers are Esr1-negative
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• mutants develop mammary gland preneoplasia that are Esr1-negative
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• 25% of mutants develop ureteral obstruction 1-3 months after estrogen pellet placement
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• mutants exhibit increased mammary epithelial cellular proliferation compared to controls when treated with exogenous estrogen
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• mutants exposed to estrogen exhibit an increase in the number of hyperplastic alveolar nodules per mammary gland compared to mutants with wild-type Trp53 and also an increase in the percentage of mice with hyperplastic alveolar nodules
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• 25% of mutants develop invasive mammary cancer when exposed to exogenous estrogen
• cancers are Esr1-negative
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• mutants exhibit increased mammary epithelial cellular proliferation compared to controls when treated with exogenous estrogen
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hereditary breast ovarian cancer syndrome | DOID:5683 | J:132088 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants develop hyperplastic alveolar nodules
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• 100% of mutants develop invasive mammary cancer
• some cancers are Esr1-negative while others are Esr1-positive
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• 100% of mutants develop invasive mammary cancer
• some cancers are Esr1-negative while others are Esr1-positive
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• mutants develop mammary gland preneoplasia
• some preneoplasia are Esr1-negative while others are Esr1-positive
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• mutants develop hyperplastic alveolar nodules
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• 100% of mutants develop invasive mammary cancer
• some cancers are Esr1-negative while others are Esr1-positive
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hereditary breast ovarian cancer syndrome | DOID:5683 | J:132088 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at pregnancy day 8.5, mammary glands are smaller than controls
• at pregnancy day 16.5, mammary development is incomplete with fat pads that are less than 80% filled in the most severely affected mutants
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• 2 of 13 female mice developed mammary tumors of diverse types
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• developmental defects may correlate with apoptosis observed in mutant mammary glands
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• abnormal ductal morphogenesis was observed at lactation and involution
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• residual alveolar structures sometimes remain in involuting mammary glands
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• at pregnancy day 8.5, mammary glands are smaller than controls
• at pregnancy day 16.5, mammary development is incomplete with fat pads that are less than 80% filled in the most severely affected mutants
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• 2 of 13 female mice developed mammary tumors of diverse types
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• developmental defects may correlate with apoptosis observed in mutant mammary glands
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• abnormal ductal morphogenesis was observed at lactation and involution
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• residual alveolar structures sometimes remain in involuting mammary glands
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• at pregnancy day 8.5, mammary glands are smaller than controls
• at pregnancy day 16.5, mammary development is incomplete with fat pads that are less than 80% filled in the most severely affected mutants
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• 2 of 13 female mice developed mammary tumors of diverse types
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• at pregnancy day 8.5, mammary glands are smaller than controls
• at pregnancy day 16.5, mammary development is incomplete with fat pads that are less than 80% filled in the most severely affected mutants
|
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• 3 of 10 female mice developed mammary tumors of diverse types
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• developmental defects may correlate with apoptosis observed in mutant mammary glands
|
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|
• abnormal ductal morphogenesis was observed at lactation and involution
|
|
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• residual alveolar structures sometimes remain in involuting mammary glands
|
|
|
• at pregnancy day 8.5, mammary glands are smaller than controls
• at pregnancy day 16.5, mammary development is incomplete with fat pads that are less than 80% filled in the most severely affected mutants
|
|
• 3 of 10 female mice developed mammary tumors of diverse types
|
|
|
• developmental defects may correlate with apoptosis observed in mutant mammary glands
|
|
|
• abnormal ductal morphogenesis was observed at lactation and involution
|
|
|
• residual alveolar structures sometimes remain in involuting mammary glands
|
|
|
• at pregnancy day 8.5, mammary glands are smaller than controls
• at pregnancy day 16.5, mammary development is incomplete with fat pads that are less than 80% filled in the most severely affected mutants
|
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• 3 of 10 female mice developed mammary tumors of diverse types
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• develop tumors in the skin, inner ear canal, and oral epithelium after 1 year of age, such that at 70 weeks of age, 42.9% and by 88 weeks of age, 72% of mice have tumors
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• develop tumors in the oral epithelium
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• develop tumors in the skin
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• majority of tumors are squamous cell carcinomas of the inner ear canal and oral epithelium
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• increase in basal keratinocyte proliferation
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• mutants exhibit increased epidermal proliferation and apoptosis, however epidermis appears histologically normal
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• develop tumors in the skin
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• increase in basal keratinocyte proliferation
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• develop tumors in the oral epithelium
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants exhibit increased mammary epithelial cellular proliferation compared to controls when treated with exogenous estrogen
• dense mammary epithelial cell growth is seen in estrogen-treated intact and ovariectomized mutants but not wild-type mice
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• mammary glands exhibit longer ductal extension during puberty (6 weeks of age)
• 3 week old mutants exposed to continuous exogenous estrogen and progesterone for 2 weeks exhibit impaired terminal end bud differentiation into terminal ductal ends unlink wild-type mice
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• mutants exposed to estrogen exhibit an increase in the number of hyperplastic alveolar nodules per mammary gland compared to controls and also an increase in the percentage of mice with hyperplastic alveolar nodules
|
|
• 14% of mutants develop invasive mammary cancer when exposed to exogenous estrogen
|
|
|
• mutants exhibit increased mammary epithelial cellular proliferation compared to controls when treated with exogenous estrogen
• dense mammary epithelial cell growth is seen in estrogen-treated intact and ovariectomized mutants but not wild-type mice
|
|
|
• mammary glands exhibit longer ductal extension during puberty (6 weeks of age)
• 3 week old mutants exposed to continuous exogenous estrogen and progesterone for 2 weeks exhibit impaired terminal end bud differentiation into terminal ductal ends unlink wild-type mice
|
|
|
• mutants exposed to estrogen exhibit an increase in the number of hyperplastic alveolar nodules per mammary gland compared to controls and also an increase in the percentage of mice with hyperplastic alveolar nodules
|
|
• 14% of mutants develop invasive mammary cancer when exposed to exogenous estrogen
|
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• 71% of mutants develop ureteral obstruction 1-5 months after estrogen pellet placement
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• 14% of mutants develop invasive mammary cancer when exposed to exogenous estrogen
|
|
|
• mutants exhibit increased mammary epithelial cellular proliferation compared to controls when treated with exogenous estrogen
• dense mammary epithelial cell growth is seen in estrogen-treated intact and ovariectomized mutants but not wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• fewer (6.25%) than the expected 12.5% of mutants were observed, indicating some lethality; time of analysis not specified
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• by 45 weeks of age, all mutants develop at least one skin tumor, with an average of four tumors per mouse
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• skin tumors are all squamous cell carcinoma
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• all mutants develop tumors by 45 weeks of age, significantly sooner than Brca1tm1Cxd/Brca1tm2Cxd Tg(KRT5-cre)1Jlj/0 mice or Brca1tm2Cxd/Brca1+ Tg(KRT5-cre)1Jlj/0 mice and by 70 weeks of age, 100% of mice exhibit tumors
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• increase in basal keratinocyte proliferation
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• mutants exhibit increased epidermal proliferation and apoptosis
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• by 45 weeks of age, all mutants develop at least one skin tumor, with an average of four tumors per mouse
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• increase in basal keratinocyte proliferation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at the ages between 12 and 20 months, 68% of mutant mice had grossly visible cysts attached to the ovary, within the wall of the uterine horns, or on the external surface of the uterine horns
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• at the ages between 12 and 20 months, 2 out of 59 of mutant mice had renal cysts
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• at the ages between 12 and 20 months, 68% of mutant mice had grossly visible cysts attached to the ovary, within the wall of the uterine horns, or on the external surface of the uterine horns
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• at the ages between 12 and 20 months, 68% of mutant mice had grossly visible cysts attached to the ovary, within the wall of the uterine horns, or on the external surface of the uterine horns
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• at the ages between 12 and 20 months, 2 out of 59 of mutant mice had renal cysts
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants develop tumors after 1 year of age and by 70 weeks, 50% of mutants have tumors
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• majority of tumors occur in the skin
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• majority of tumors are squamous cell carcinoma
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• increase in basal keratinocyte proliferation
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• mutants exhibit increased epidermal proliferation and apoptosis
|
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• majority of tumors occur in the skin
|
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• increase in basal keratinocyte proliferation
|
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 94.7% of mutants develop tumors at 70 weeks of age
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• some females develop tumors in the oral epithelium
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• develop tumors in the skin
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• females develop squamous cell carcinoma in the cervix and vaginal epithelium
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• females develop papillomas in the cervix
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• develop tumors of the reproductive tract; all females develop tumors, with the majority from the cervix (papillomas and squamous cell carcinoma) and vaginal epithelium (squamous cell carcinoma)
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• increase in basal keratinocyte proliferation
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• mutants exhibit increased epidermal proliferation and apoptosis
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• develop tumors in the skin
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• increase in basal keratinocyte proliferation
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• develop tumors of the reproductive tract; all females develop tumors, with the majority from the cervix (papillomas and squamous cell carcinoma) and vaginal epithelium (squamous cell carcinoma)
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• some females develop tumors in the oral epithelium
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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 04/16/2024 MGI 6.23 |
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