Phenotypes associated with this allele

• Allele Symbol: Brca1^tm2Arge
• Allele Name: targeted mutation 2, Argiris Efstratiadis
• Allele ID: MGI:2177209
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Brca1^tm2Arge/Brca1^tm2Arge	129-Brca1^tm2Arge	MGI:2177682
hm2	Brca1^tm2Arge/Brca1^tm2Arge	B6.129-Brca1^tm2Arge	MGI:2177681
hm3	Brca1^tm2Arge/Brca1^tm2Arge	involves: 129	MGI:5491069
hm4	Brca1^tm2Arge/Brca1^tm2Arge	involves: 129 * C57BL/6	MGI:5494457
hm5	Brca1^tm2Arge/Brca1^tm2Arge	involves: 129 * C57BL/6J	MGI:2177678
hm6	Brca1^tm2Arge/Brca1^tm2Arge	involves: 129/Sv * C57BL/6J * MF1	MGI:2177683
ht7	Brca1^tm2Arge/Brca1^tm3.1Rjbr	involves: 129 * C57BL/6	MGI:5494454

Genotype
MGI:2177682

hm1

• Allelic Composition: Brca1^tm2Arge/Brca1^tm2Arge
• Genetic Background: 129-Brca1^tm2Arge

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

neoplasm

increased tumor incidence ( J:69187 )

• mice develop a variety of tumors, including mammary tumors

increased mammary gland tumor incidence ( J:69187 )

pigmentation

abnormal skin pigmentation ( J:69187 )

growth/size/body

postnatal growth retardation ( J:69187 )

• mild growth retardation

limbs/digits/tail

kinked tail ( J:69187 )

reproductive system

arrest of spermatogenesis ( J:69187 )

♂

male infertility ( J:69187 )

♂

integument

increased mammary gland tumor incidence ( J:69187 )

abnormal skin pigmentation ( J:69187 )

endocrine/exocrine glands

increased mammary gland tumor incidence ( J:69187 )

Genotype
MGI:2177681

hm2

• Allelic Composition: Brca1^tm2Arge/Brca1^tm2Arge
• Genetic Background: B6.129-Brca1^tm2Arge

mortality/aging

prenatal lethality, incomplete penetrance ( J:69187 )

• on a predominantly C57BL/6J genetic background, less than 4% of homozygous mutants survived to term

Genotype
MGI:5491069

hm3

• Allelic Composition: Brca1^tm2Arge/Brca1^tm2Arge
• Genetic Background: involves: 129

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:194229 )

• more than half of the mutant mice die by 10 days after MMC exposure while all similarly treated wild-type mice survive

• all mutant mice are dead by 16 days post MMC exposure

cellular

abnormal double-strand DNA break repair ( J:194229 )

• five- and three-fold decrease in homology directed repair activity in MEFs and ear fibroblasts, respectively, compared to controls

homeostasis/metabolism

abnormal double-strand DNA break repair ( J:194229 )

• five- and three-fold decrease in homology directed repair activity in MEFs and ear fibroblasts, respectively, compared to controls

increased susceptibility to xenobiotic induced morbidity/mortality ( J:194229 )

• more than half of the mutant mice die by 10 days after MMC exposure while all similarly treated wild-type mice survive

• all mutant mice are dead by 16 days post MMC exposure

Genotype
MGI:5494457

hm4

• Allelic Composition: Brca1^tm2Arge/Brca1^tm2Arge
• Genetic Background: involves: 129 * C57BL/6

neoplasm

increased tumor incidence ( J:177853 )

Genotype
MGI:2177678

hm5

• Allelic Composition: Brca1^tm2Arge/Brca1^tm2Arge
• Genetic Background: involves: 129 * C57BL/6J

mortality/aging

prenatal lethality, incomplete penetrance ( J:69187 )

• on a (C57BL/6J x 129/Sv)F2 genetic background, only 4% of homozygous mutants survived to term

Genotype
MGI:2177683

hm6

• Allelic Composition: Brca1^tm2Arge/Brca1^tm2Arge
• Genetic Background: involves: 129/Sv * C57BL/6J * MF1

neoplasm

increased tumor incidence ( J:69187 )

• mice develop a variety of tumors, including mammary tumors

increased mammary gland tumor incidence ( J:69187 )

pigmentation

abnormal skin pigmentation ( J:69187 )

growth/size/body

postnatal growth retardation ( J:69187 )

• mild growth retardation

limbs/digits/tail

kinked tail ( J:69187 )

reproductive system

arrest of spermatogenesis ( J:69187 )

♂

male infertility ( J:69187 )

♂

integument

increased mammary gland tumor incidence ( J:69187 )

abnormal skin pigmentation ( J:69187 )

endocrine/exocrine glands

increased mammary gland tumor incidence ( J:69187 )

Genotype
MGI:5494454

ht7

• Allelic Composition: Brca1^tm2Arge/Brca1^tm3.1Rjbr
• Genetic Background: involves: 129 * C57BL/6

neoplasm

neoplasm ( J:177853 )

N • mice do not exhibit increased spontaneous tumor formation