All Phenotypes Brca1<tm1Cxd> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Brca1^tm1Cxd
targeted mutation 1, Chu-Xia Deng
MGI:1930612

Summary

9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Brca1^tm1Cxd/Brca1^tm1Cxd	either: 129S6/SvEvTac-Brca1^tm1Cxd or (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)	MGI:2174678
hm2	Brca1^tm1Cxd/Brca1^tm1Cxd	involves: 129S6/SvEvTac	MGI:6296798
cn3	Brca1^tm1Cxd/Brca1^tm2Cxd Trp53^tm1Brd/Trp53⁺ Tg(MMTV-cre)4Mam/0	involves: 129S6/SvEvTac * 129S7/SvEvBrd * Black Swiss * FVB	MGI:2176786
cn4	Brca1^tm1Cxd/Brca1^tm2Cxd Tg(Wap-cre)11738Mam/0	involves: 129S6/SvEvTac * Black Swiss	MGI:2176784
cn5	Brca1^tm1Cxd/Brca1^tm2Cxd Tg(MMTV-cre)4Mam/0	involves: 129S6/SvEvTac * Black Swiss * FVB	MGI:2176785
cn6	Brca1^tm1Cxd/Brca1^tm2Cxd Tg(KRT5-cre)5132Jlj/0	involves: 129S6/SvEvTac * C57BL/6	MGI:2677031
cn7	Brca1^tm1Cxd/Brca1^tm2Cxd Tg(KRT5-cre)5132Jlj/0 Tg(KRT5-E2F1)2Dgj/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:2677036
cx8	Brca1^tm1Cxd/Brca1^tm1Cxd Trp53^tm1Brd/Trp53^tm1Brd	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3640093
cx9	Brca1^tm1Cxd/Brca1^tm2Cxd Tg(KRT5-E2F1)2Dgj/0	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:2677035

Allelic Composition	Brca1^tm1Cxd/Brca1^tm1Cxd
Genetic Background	either: 129S6/SvEvTac-Brca1^tm1Cxd or (involves: 129S6/SvEvTac * Black Swiss) or (involves: 129S6/SvEvTac * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm1Cxd mutation (1 available); any Brca1 mutation (114 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality between implantation and placentation, complete penetrance ( J:51834 )

• embryos die between E7.5-E9.5, achieving variable developmental stages

embryo

decreased embryo size ( J:51834 )

• at E7.5 and beyond, surviving embryos appear smaller than controls

abnormal embryonic tissue morphology ( J:51834 )

• at E6.5, embryos appear similar to controls

• at later stages, extraembryonic tissue appears normal while embryonic tissue appears smaller and disorganized

abnormal axial mesoderm morphology ( J:51834 )

abnormal primitive streak formation ( J:51834 )

• delayed at E9.5 in surviving embryos

cellular

abnormal chromosome number ( J:51834 )

• cells derived from E7.5 embryos exhibit widespread abnormalities in cell chromosome number; 30% of cells contain more or less than the normal complement of 40 chromosomes

increased cellular sensitivity to gamma-irradiation ( J:51834 )

• isolated blastocyts subjected to gamma-irradiation exhibited a reduction in the growth rate of trophoblast cells compared to controls

growth/size/body

decreased embryo size ( J:51834 )

• at E7.5 and beyond, surviving embryos appear smaller than controls

Allelic Composition	Brca1^tm1Cxd/Brca1^tm1Cxd
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm1Cxd mutation (1 available); any Brca1 mutation (114 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cellular

abnormal double-strand DNA break repair ( J:269823 )

• impaired repair following radiation induced DNA damage in mouse embryonic fibroblast

homeostasis/metabolism

abnormal double-strand DNA break repair ( J:269823 )

• impaired repair following radiation induced DNA damage in mouse embryonic fibroblast

Allelic Composition	Brca1^tm1Cxd/Brca1^tm2Cxd Trp53^tm1Brd/Trp53⁺ Tg(MMTV-cre)4Mam/0
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd * Black Swiss * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm1Cxd mutation (1 available); any Brca1 mutation (114 available)
Brca1^tm2Cxd mutation (3 available); any Brca1 mutation (114 available)
Tg(MMTV-cre)4Mam mutation (1 available)
Trp53^tm1Brd mutation (5 available); any Trp53 mutation (239 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

neoplasm

increased mammary gland tumor incidence ( J:54533 )

• by 6-8 months of age, 8 of 11 females developed mammary gland tumors that exhibited several distinct histopathologies

endocrine/exocrine glands

increased mammary gland tumor incidence ( J:54533 )

• by 6-8 months of age, 8 of 11 females developed mammary gland tumors that exhibited several distinct histopathologies

integument

increased mammary gland tumor incidence ( J:54533 )

• by 6-8 months of age, 8 of 11 females developed mammary gland tumors that exhibited several distinct histopathologies

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

Allelic Composition	Brca1^tm1Cxd/Brca1^tm2Cxd Tg(Wap-cre)11738Mam/0
Genetic Background	involves: 129S6/SvEvTac * Black Swiss

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

reproductive system

abnormal mammary gland growth during pregnancy ( J:54533 )

• 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

neoplasm

increased mammary gland tumor incidence ( J:54533 )

• 2 of 13 female mice developed mammary tumors of diverse types

endocrine/exocrine glands

abnormal mammary gland development ( J:54533 )

• developmental defects may correlate with apoptosis observed in mutant mammary glands

abnormal branching of the mammary ductal tree ( J:54533 )

• abnormal ductal morphogenesis was observed at lactation and involution

abnormal involution of the mammary gland ( J:54533 )

• residual alveolar structures sometimes remain in involuting mammary glands

abnormal mammary gland growth during pregnancy ( J:54533 )

• 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

increased mammary gland tumor incidence ( J:54533 )

• 2 of 13 female mice developed mammary tumors of diverse types

integument

abnormal mammary gland development ( J:54533 )

• developmental defects may correlate with apoptosis observed in mutant mammary glands

abnormal branching of the mammary ductal tree ( J:54533 )

• abnormal ductal morphogenesis was observed at lactation and involution

abnormal involution of the mammary gland ( J:54533 )

• residual alveolar structures sometimes remain in involuting mammary glands

abnormal mammary gland growth during pregnancy ( J:54533 )

• 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

increased mammary gland tumor incidence ( J:54533 )

• 2 of 13 female mice developed mammary tumors of diverse types

Allelic Composition	Brca1^tm1Cxd/Brca1^tm2Cxd Tg(MMTV-cre)4Mam/0
Genetic Background	involves: 129S6/SvEvTac * Black Swiss * FVB

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

reproductive system

abnormal mammary gland growth during pregnancy ( J:54533 )

• 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

neoplasm

increased mammary gland tumor incidence ( J:54533 )

• 3 of 10 female mice developed mammary tumors of diverse types

increased mammary adenocarcinoma incidence ( J:54533 )

endocrine/exocrine glands

abnormal mammary gland development ( J:54533 )

• developmental defects may correlate with apoptosis observed in mutant mammary glands

abnormal branching of the mammary ductal tree ( J:54533 )

• abnormal ductal morphogenesis was observed at lactation and involution

abnormal involution of the mammary gland ( J:54533 )

• residual alveolar structures sometimes remain in involuting mammary glands

abnormal mammary gland growth during pregnancy ( J:54533 )

• 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

increased mammary gland tumor incidence ( J:54533 )

• 3 of 10 female mice developed mammary tumors of diverse types

increased mammary adenocarcinoma incidence ( J:54533 )

integument

abnormal mammary gland development ( J:54533 )

• developmental defects may correlate with apoptosis observed in mutant mammary glands

abnormal branching of the mammary ductal tree ( J:54533 )

• abnormal ductal morphogenesis was observed at lactation and involution

abnormal involution of the mammary gland ( J:54533 )

• residual alveolar structures sometimes remain in involuting mammary glands

abnormal mammary gland growth during pregnancy ( J:54533 )

• 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

increased mammary gland tumor incidence ( J:54533 )

• 3 of 10 female mice developed mammary tumors of diverse types

increased mammary adenocarcinoma incidence ( J:54533 )

Allelic Composition	Brca1^tm1Cxd/Brca1^tm2Cxd Tg(KRT5-cre)5132Jlj/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

neoplasm

increased tumor incidence ( J:85354 )

• 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

increased mouth tumor incidence ( J:85354 )

• develop tumors in the oral epithelium

increased skin tumor incidence ( J:85354 )

• develop tumors in the skin

increased squamous cell carcinoma incidence ( J:85354 )

• majority of tumors are squamous cell carcinomas of the inner ear canal and oral epithelium

integument

increased keratinocyte proliferation ( J:85354 )

• increase in basal keratinocyte proliferation

abnormal epidermal layer morphology ( J:85354 )

• mutants exhibit increased epidermal proliferation and apoptosis, however epidermis appears histologically normal

increased skin tumor incidence ( J:85354 )

• develop tumors in the skin

cellular

increased keratinocyte proliferation ( J:85354 )

• increase in basal keratinocyte proliferation

digestive/alimentary system

increased mouth tumor incidence ( J:85354 )

• develop tumors in the oral epithelium

Allelic Composition	Brca1^tm1Cxd/Brca1^tm2Cxd Tg(KRT5-cre)5132Jlj/0 Tg(KRT5-E2F1)2Dgj/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm1Cxd mutation (1 available); any Brca1 mutation (114 available)
Brca1^tm2Cxd mutation (3 available); any Brca1 mutation (114 available)
Tg(KRT5-cre)5132Jlj mutation (1 available)
Tg(KRT5-E2F1)2Dgj mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

preweaning lethality, incomplete penetrance ( J:85354 )

• fewer (6.25%) than the expected 12.5% of mutants were observed, indicating some lethality; time of analysis not specified

neoplasm

increased skin tumor incidence ( J:85354 )

• by 45 weeks of age, all mutants develop at least one skin tumor, with an average of four tumors per mouse

increased squamous cell carcinoma incidence ( J:85354 )

• skin tumors are all squamous cell carcinoma

decreased tumor latency ( J:85354 )

• all mutants develop tumors by 45 weeks of age, significantly sooner than Brca1^tm1Cxd/Brca1^tm2Cxd Tg(KRT5-cre)1Jlj/0 mice or Brca1^tm2Cxd/Brca1⁺ Tg(KRT5-cre)1Jlj/0 mice and by 70 weeks of age, 100% of mice exhibit tumors

integument

increased keratinocyte proliferation ( J:85354 )

• increase in basal keratinocyte proliferation

abnormal epidermal layer morphology ( J:85354 )

• mutants exhibit increased epidermal proliferation and apoptosis

increased skin tumor incidence ( J:85354 )

• by 45 weeks of age, all mutants develop at least one skin tumor, with an average of four tumors per mouse

cellular

increased keratinocyte proliferation ( J:85354 )

• increase in basal keratinocyte proliferation

Allelic Composition	Brca1^tm1Cxd/Brca1^tm1Cxd Trp53^tm1Brd/Trp53^tm1Brd
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm1Cxd mutation (1 available); any Brca1 mutation (114 available)
Trp53^tm1Brd mutation (5 available); any Trp53 mutation (239 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:51834 )

• double mutant embryos survive on average of 2 days longer than Brca1^tm1Cxd single homozygous embryos

• at E10.5, all double homozygous embryos are dead or dying

embryo

decreased embryo size ( J:51834 )

abnormal embryonic tissue morphology ( J:51834 )

• morphologically abnormal compared to controls

cellular

abnormal chromosome number ( J:51834 )

• 29% of cells contained more than 40 chromosomes and 43% of cells contained less than 40 chromosomes

spontaneous chromosome breakage ( J:51834 )

• many cells show chromosomal rearrangements such as translocations and dicentric chromosomes

growth/size/body

decreased embryo size ( J:51834 )

Allelic Composition	Brca1^tm1Cxd/Brca1^tm2Cxd Tg(KRT5-E2F1)2Dgj/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * SJL

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

neoplasm

increased tumor incidence ( J:85354 )

• 94.7% of mutants develop tumors at 70 weeks of age

increased mouth tumor incidence ( J:85354 )

• some females develop tumors in the oral epithelium

increased skin tumor incidence ( J:85354 )

• develop tumors in the skin

increased squamous cell carcinoma incidence ( J:85354 )

• females develop squamous cell carcinoma in the cervix and vaginal epithelium

increased papilloma incidence ( J:85354 )

• females develop papillomas in the cervix

increased reproductive system tumor incidence ( J:85354 )

• 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)

integument

increased keratinocyte proliferation ( J:85354 )

• increase in basal keratinocyte proliferation

abnormal epidermal layer morphology ( J:85354 )

• mutants exhibit increased epidermal proliferation and apoptosis

increased skin tumor incidence ( J:85354 )

• develop tumors in the skin

cellular

increased keratinocyte proliferation ( J:85354 )

• increase in basal keratinocyte proliferation

reproductive system

increased reproductive system tumor incidence ( J:85354 )

• 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)

digestive/alimentary system

increased mouth tumor incidence ( J:85354 )

• some females develop tumors in the oral epithelium

Contributing Projects: 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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