Phenotypes associated with this allele

• Allele Symbol: Brca2^tm1Cbl
• Allele Name: targeted mutation 1, Chester Beatty Laboratories
• Allele ID: MGI:2177226
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Brca2^tm1Cbl/Brca2^tm1Cbl	either: (involves: 129S2/SvPas * C57BL/10) or (involves: 129S2/SvPas * C57BL/6 * DBA/2)	MGI:4430485

Genotype
MGI:4430485

hm1

• Allelic Composition: Brca2^tm1Cbl/Brca2^tm1Cbl
• Genetic Background: either: (involves: 129S2/SvPas * C57BL/10) or (involves: 129S2/SvPas * C57BL/6 * DBA/2)

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

mortality/aging

premature death ( J:44386 )

• mice do not survive beyond 5.5 months of age

postnatal lethality, incomplete penetrance ( J:44386 )

• some mice die between birth and P18

• Background Sensitivity: fewer mice survive to adulthood on a 129 and C57BL/10 background compared to on a 129, C57BL/6, and DBA/2 background

reproductive system

azoospermia ( J:44386 )

♂

absent ovarian follicles ( J:44386 )

♀

small ovary ( J:44386 )

♀

ovary degeneration ( J:44386 )

♀ • ovaries appear to degenerate unlike in wild-type mice

small testis ( J:44386 )

♂

male infertility ( J:44386 )

♂

growth/size/body

decreased birth weight ( J:44386 )

• mice weigh half as much as wild-type mice

decreased body weight ( J:44386 )

• mice weigh half as much as wild-type mice

decreased fetal weight ( J:44386 )

• at E17.5, mice weigh half as much as wild-type mice

fetal growth retardation ( J:44386 )

• at E17.5, organs are developmentally immature compared to in wild-type mice

cellular

azoospermia ( J:44386 )

♂

decreased fibroblast proliferation ( J:44386 )

• mouse embryonic fibroblast cells exhibit reduced proliferation compared with wild-type cells

abnormal double-strand DNA break repair ( J:44386 )

• mouse embryonic fibroblasts fail to repair X-ray-induced double strand breaks after 15 minutes unlike similarly treated wild-type cells

skeleton

abnormal sternum morphology ( J:44386 )

• at E14.5

abnormal rib morphology ( J:44386 )

• at E14.5

neoplasm

increased T cell derived lymphoma incidence ( J:44386 )

limbs/digits/tail

kinked tail ( J:44386 )

• in 60% of mice

homeostasis/metabolism

abnormal double-strand DNA break repair ( J:44386 )

• mouse embryonic fibroblasts fail to repair X-ray-induced double strand breaks after 15 minutes unlike similarly treated wild-type cells

endocrine/exocrine glands

absent ovarian follicles ( J:44386 )

♀

small ovary ( J:44386 )

♀

ovary degeneration ( J:44386 )

♀ • ovaries appear to degenerate unlike in wild-type mice

small testis ( J:44386 )

♂

increased T cell derived lymphoma incidence ( J:44386 )

integument

abnormal skin morphology ( J:44386 )

• at E17.5

abnormal epidermal layer morphology ( J:44386 )

• at E17.5, epidermal layering is abnormal compared to in wild-type mice

abnormal epidermis stratum basale morphology ( J:44386 )

• ill-defined at E17.5

absent epidermis stratum corneum ( J:44386 )

• at E17.5

abnormal epidermis stratum spinosum morphology ( J:44386 )

• poorly stratified at E17.5