Phenotypes associated with this allele

• Allele Symbol: Brca1^tm3Cxd
• Allele Name: targeted mutation 3, Chu-Xia Deng
• Allele ID: MGI:3513253
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Brca1^tm3Cxd/Brca1^tm3Cxd	involves: 129S6/SvEvTac * FVB/N	MGI:3513313

Genotype
MGI:3513313

hm1

• Allelic Composition: Brca1^tm3Cxd/Brca1^tm3Cxd
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

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

neoplasm

increased tumor incidence ( J:94114 )

• susceptible to spontaneous tumor formation

increased mammary gland tumor incidence ( J:94114 )

increased hepatoma incidence ( J:94114 )

• 1/6 developed a hepatoma

increased lipoma incidence ( J:94114 )

• 1/6 developed a lipoma

increased lymphoma incidence ( J:94114 )

• gamma-irradiation induced lymphoma in 7 out of 13 mutants

• 1-methyl-1-nitrosourea (MNU) treatment induced lymphoma in 11 out of 15 mutants

increased incidence of tumors by ionizing radiation induction ( J:94114 )

• DNA damage induced with gamma-irradiation caused 80% of 1 year old mutants to develop tumors compared to 15% of wild-type mice, with most developing lymphomas, three developing mammary tumors and one developing colon and uterus tumors

cellular

abnormal cell cycle ( J:94114 )

• gamma-irradiated MEFs had significantly more cells in mitotic phase

endocrine/exocrine glands

abnormal branching of the mammary ductal tree ( J:94114 )

♀ • at 2 years of age, 4/6 mutants exhibited very dense branches in mammary glands with small hyperplastic foci

♀ • 13 months after gamma-irradiation, mammary glands showed an increased branch morphogenesis with hyperplastic foci however, no focus formation was observed in mice younger than 300 days

increased mammary gland tumor incidence ( J:94114 )

abnormal ovary morphology ( J:94114 )

♀ • some mutants exhibited ovaries with abnormal structures while others had blood aggregates that replaced lost ovaries

growth/size/body

increased body weight ( J:94114 )

• after gamma-irradiation treatment, mutants weighed ~25% more than wild-type at 10 and 11 months of age, but not at 3 months of age

reproductive system

abnormal ovary morphology ( J:94114 )

♀ • some mutants exhibited ovaries with abnormal structures while others had blood aggregates that replaced lost ovaries

uterus hyperplasia ( J:94114 )

♀ • 7/8 mutants had enlarged uteri with polyps that were invaded by thick blood vessels at 2 years of age

integument

abnormal branching of the mammary ductal tree ( J:94114 )

♀ • at 2 years of age, 4/6 mutants exhibited very dense branches in mammary glands with small hyperplastic foci

♀ • 13 months after gamma-irradiation, mammary glands showed an increased branch morphogenesis with hyperplastic foci however, no focus formation was observed in mice younger than 300 days

increased mammary gland tumor incidence ( J:94114 )

abnormal awl hair morphology ( J:94114 )

• 20% of awl hairs had defects in pigmentation after gamma-irradiation resulting in gradually increasing gray hair so that after 6 months of treatment, mutants looked gray

liver/biliary system

increased hepatoma incidence ( J:94114 )

• 1/6 developed a hepatoma