Phenotypes associated with this allele

• Allele Symbol: Brca1^tm5.1Cxd
• Allele Name: targeted mutation 5.1, Chu-Xia Deng
• Allele ID: MGI:4418211
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Brca1^tm5.1Cxd/Brca1^tm5.1Cxd	involves: 129S6/SvEvTac * FVB/N	MGI:4418221

Genotype
MGI:4418221

hm1

• Allelic Composition: Brca1^tm5.1Cxd/Brca1^tm5.1Cxd
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

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

mortality/aging

increased mortality induced by gamma-irradiation ( J:155810 )

• decreased life span of mutant mice (11.3 days) compared with wild type (18.6 days) after 8 gray (Gy) irradiation

decreased survivor rate ( J:155810 )

• reduced survivor rate after 50 days of age

growth/size/body

decreased body weight ( J:155810 )

• the weight of the mutant mice (n = 15) do not increase after 6 months

• 28 of 78 were small and thin

neoplasm

increased mammary gland tumor incidence ( J:155810 )

♀ • 4 out of 22 mutant mice develop mammary tumors after gamma-irradiation (3 Gy)

increased liver tumor incidence ( J:155810 )

• 3 out of 22 mutant mice develop liver tumors after gamma-irradiation (3 Gy)

increased lymphoma incidence ( J:155810 )

• 17 out of 22 mutant mice develop lymphoma after gamma-irradiation (3 Gy)

increased T cell derived lymphoma incidence ( J:155810 )

• 2 out of 78 mice die of thymic lymphoma

increased incidence of tumors by ionizing radiation induction ( J:155810 )

• 80% of mutant mice develop tumors within the first year of life after gamma-irradiation (3 Gy), versus 20% in wild type

• all mutant mice develop tumors by 18 months of age after gamma-irradiation (3 Gy)

adipose tissue

decreased subcutaneous adipose tissue amount ( J:155810 )

• reduced thickness of the subcutaneous layer after shaving and wounding

endocrine/exocrine glands

increased mammary gland epithelial cell proliferation ( J:155810 )

♀ • increased epithelial cell proliferation in mammary gland as shown by staining for cyclin D1 and phosphorylated estrogen receptor (ER)-alpha

abnormal mammary gland development ( J:155810 )

♀ • delayed mammary gland development (mature structure of mammary gland at 4 months of age)

♀ • no mammary gland abnormalities in pregnancy, lactation, and involution periods

abnormal branching of the mammary ductal tree ( J:155810 )

♀ • delayed development of duct formation in 22% (6 of 27) 2-month-old virgin female mice

abnormal mammary gland lobule morphology ( J:155810 )

♀ • delayed development of lobular formation in 33% (9 of 27) 2-month-old virgin female mice

increased mammary gland tumor incidence ( J:155810 )

♀ • 4 out of 22 mutant mice develop mammary tumors after gamma-irradiation (3 Gy)

mammary gland hyperplasia ( J:155810 )

♀ • 6 out of 15 female mutant mice have very dense branches, with small atypical hyperplastic foci at 18 month old

♀ • no spontaneous mammary tumor formation

increased T cell derived lymphoma incidence ( J:155810 )

• 2 out of 78 mice die of thymic lymphoma

increased mammary gland apoptosis ( J:155810 )

♀ • increased apoptosis in the thoracic mammary glands of mutant mice (3.3%) compared with wild type mice (0.19%)

cellular

increased cellular sensitivity to gamma-irradiation ( J:155810 )

• increased apoptotic signals in a broad region of atrophic small intestinal mucosa

increased mammary gland epithelial cell proliferation ( J:155810 )

♀ • increased epithelial cell proliferation in mammary gland as shown by staining for cyclin D1 and phosphorylated estrogen receptor (ER)-alpha

digestive/alimentary system

abnormal small intestinal villus morphology ( J:155810 )

• marked rounding of villi in the small intestine after 8 Gy irradiation

decreased small intestinal villus height ( J:155810 )

• marked shortening of villi in the small intestine after 8 Gy irradiation

immune system

dermatitis ( J:155810 )

• 28 of 78 mutants display severe dermatitis in the dorsal region, from neck to tail

behavior/neurological

hyperactivity ( J:155810 )

• 28 of 78 were hyperactive

pigmentation

abnormal coat/hair pigmentation ( J:155810 )

• graying hair after gamma-irradiation (3 Gy)

integument

decreased subcutaneous adipose tissue amount ( J:155810 )

• reduced thickness of the subcutaneous layer after shaving and wounding

increased mammary gland epithelial cell proliferation ( J:155810 )

♀ • increased epithelial cell proliferation in mammary gland as shown by staining for cyclin D1 and phosphorylated estrogen receptor (ER)-alpha

abnormal mammary gland development ( J:155810 )

♀ • delayed mammary gland development (mature structure of mammary gland at 4 months of age)

♀ • no mammary gland abnormalities in pregnancy, lactation, and involution periods

abnormal branching of the mammary ductal tree ( J:155810 )

♀ • delayed development of duct formation in 22% (6 of 27) 2-month-old virgin female mice

abnormal mammary gland lobule morphology ( J:155810 )

♀ • delayed development of lobular formation in 33% (9 of 27) 2-month-old virgin female mice

increased mammary gland tumor incidence ( J:155810 )

♀ • 4 out of 22 mutant mice develop mammary tumors after gamma-irradiation (3 Gy)

mammary gland hyperplasia ( J:155810 )

♀ • 6 out of 15 female mutant mice have very dense branches, with small atypical hyperplastic foci at 18 month old

♀ • no spontaneous mammary tumor formation

increased mammary gland apoptosis ( J:155810 )

♀ • increased apoptosis in the thoracic mammary glands of mutant mice (3.3%) compared with wild type mice (0.19%)

dermatitis ( J:155810 )

• 28 of 78 mutants display severe dermatitis in the dorsal region, from neck to tail

abnormal coat/hair pigmentation ( J:155810 )

• graying hair after gamma-irradiation (3 Gy)

abnormal hair growth ( J:155810 )

• mutant skins display either complete failure or delayed recovery of hair regrowth after shaving and wounding

abnormal hair follicle morphology ( J:155810 )

• 28 of 78 mutants display skin abnormalities characteristic of premature aging

decreased hair follicle number ( J:155810 )

• reduced density of hair follicles in the epidermal layer after shaving and wounding

homeostasis/metabolism

increased mortality induced by gamma-irradiation ( J:155810 )

• decreased life span of mutant mice (11.3 days) compared with wild type (18.6 days) after 8 gray (Gy) irradiation

liver/biliary system

increased liver tumor incidence ( J:155810 )

• 3 out of 22 mutant mice develop liver tumors after gamma-irradiation (3 Gy)