All Phenotypes Brca2<tm1Kamc> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Brca2^tm1Kamc/Brca2^tm1Kamc	involves: 129P2/OlaHsd	MGI:6287692
hm2	Brca2^tm1Kamc/Brca2^tm1Kamc	involves: 129P2/OlaHsd * BALB/c	MGI:3833153
hm3	Brca2^tm1Kamc/Brca2^tm1Kamc	involves: 129P2/OlaHsd * C57BL/6N	MGI:3818472
cx4	Brca2^tm1Kamc/Brca2^tm1Kamc Trp53^tm1Tyj/Trp53⁺	involves: 129P2/OlaHsd * 129S2/SvPas * BALB/c * C57BL/6	MGI:3818475
cx5	Brca2^tm1Kamc/Brca2^tm1Kamc Swsap1^em1Mjn/Swsap1^em1Mjn	involves: 129P2/OlaHsd * C57BL/6J * CBA/J	MGI:6287693

Allelic Composition	Brca2^tm1Kamc/Brca2^tm1Kamc
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca2^tm1Kamc mutation (1 available); any Brca2 mutation (132 available)

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

reproductive system

small testis ( J:268570 )

endocrine/exocrine glands

small testis ( J:268570 )

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

mortality/aging

increased mortality induced by ionizing radiation ( J:144998 )

• all mice die within 5 to 9 days of exposure to a dose at which 90% of wild-type mice survive

hematopoietic system

abnormal hematopoietic system morphology/development ( J:144998 )

• unlike in wild-type mice, wild-type transplanted cells engraft and reconstitute close to 45% after 6 months

decreased common myeloid progenitor cell number ( J:144998 )

• colony forming cells are decreased 25% to 50% in the bone marrow and spleen of adult and 1.5 week old mice compared to in wild-type mice

• only 12% of bone marrow cells form large colonies compared to 45% of wild-type cells

• the reduction in colony forming cells is more marked as length of incubation in culture is increased

impaired hematopoiesis ( J:144998 )

• following whole body irradiation, mice exhibit leukopenia, anemia, and thrombopenia that are more severe and last longer than in similarly treated wild-type mice

• when subjected to a competitive repopulation assay, bone marrow cells exhibit reduced hematopoiesis compared to wild-type cells

• bone marrow cells maintained under physiological steady-state conditions exhibit impaired hematopoiesis compared to wild-type cells

decreased bone marrow cell number ( J:144998 )

• femoral bone marrow cellularity is slightly reduced compared to in wild-type mice

• however, this decrease may reflect the decrease in body weight

spleen hypoplasia ( J:144998 )

• spleen cellularity is slightly reduced compared to in wild-type mice

• however, this decrease may reflect the decrease in body weight

cellular

abnormal chromosome morphology ( J:144998 )

• bone marrow cells exhibit a high number of spontaneous chromatid breaks compared to wild-type cells

• bone marrow cells exposed to 30 nM mitomycin C exhibit more chromatid breaks that similarly treated wild-type cells

increased sensitivity to induced cell death ( J:144998 )

• colony forming cells are more sensitive to mitomycin C than wild-type cells

• however, dosage values for X-ray exposed cells is normal, and cells from mice transplanted with wild-type cells exhibit a partial rescue of mitomycin C sensitivity

abnormal DNA repair ( J:144998 )

• no Rad51 foci are apparent in fibroblasts exposed to 12 Gy radiation unlike in similarly treated wild-type cells

growth/size/body

decreased body weight ( J:144998 )

• by 15%

immune system

spleen hypoplasia ( J:144998 )

• however, this decrease may reflect the decrease in body weight

• spleen cellularity is slightly reduced compared to in wild-type mice

homeostasis/metabolism

abnormal DNA repair ( J:144998 )

• no Rad51 foci are apparent in fibroblasts exposed to 12 Gy radiation unlike in similarly treated wild-type cells

increased mortality induced by ionizing radiation ( J:144998 )

• all mice die within 5 to 9 days of exposure to a dose at which 90% of wild-type mice survive

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fanconi anemia complementation group D1		DOID:0111089	OMIM:605724	J:144998

Allelic Composition	Brca2^tm1Kamc/Brca2^tm1Kamc
Genetic Background	involves: 129P2/OlaHsd * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca2^tm1Kamc mutation (1 available); any Brca2 mutation (132 available)

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

mortality/aging

decreased survivor rate ( J:75026 , J:109193 )

• overall survivability significantly reduced (J:75026)

lethality throughout fetal growth and development, incomplete penetrance ( J:75026 )

• 33% reduction in homozygotes at birth

• normal proportion of homozygotes at E13.5

reproductive system

reproductive system phenotype ( J:75026 )

N	• no evidence of infertility • no difficulty raising litters

neoplasm

neoplasm ( J:109193 )

N	• no mammary tumor development

increased tumor incidence ( J:75026 )

• increased incidence of a wide variety of solid tumors by 17 months

• tumor incidence more than 2X greater than in controls

• 61% of homozygotes develop tumors

endocrine/exocrine glands

abnormal branching of the mammary ductal tree ( J:75026 )

• dramatic lack of side branching

• lower density of ductules

integument

abnormal branching of the mammary ductal tree ( J:75026 )

• dramatic lack of side branching

• lower density of ductules

Allelic Composition	Brca2^tm1Kamc/Brca2^tm1Kamc Trp53^tm1Tyj/Trp53⁺
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca2^tm1Kamc mutation (1 available); any Brca2 mutation (132 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (232 available)

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

mortality/aging

decreased survivor rate ( J:109193 )

• 50% survival at 35 weeks of age

• 50% survival at 26 weeks when irradiated with 5Gy

neoplasm

increased stomach tumor incidence ( J:109193 )

• increased incidence of gastric tumors

increased mammary gland tumor incidence ( J:109193 )

• decreased latency for mammary tumor onset

increased osteosarcoma incidence ( J:109193 )

• increased incidence of osteosarcomas

skeleton

increased osteosarcoma incidence ( J:109193 )

• increased incidence of osteosarcomas

endocrine/exocrine glands

increased mammary gland tumor incidence ( J:109193 )

• decreased latency for mammary tumor onset

integument

increased mammary gland tumor incidence ( J:109193 )

• decreased latency for mammary tumor onset

digestive/alimentary system

increased stomach tumor incidence ( J:109193 )

• increased incidence of gastric tumors

Allelic Composition	Brca2^tm1Kamc/Brca2^tm1Kamc Swsap1^em1Mjn/Swsap1^em1Mjn
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca2^tm1Kamc mutation (1 available); any Brca2 mutation (132 available)
Swsap1^em1Mjn mutation (0 available); any Swsap1 mutation (16 available)

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

reproductive system

decreased testis weight ( J:268570 )

• slight

abnormal chromosomal synapsis ( J:268570 )

• worse than in Swsap1^em1Mjn homozygotes

• delayed at early zygonema, asynapsis at early pachynema

• fewer RAD51 and DMC1 foci at leptonema and early zygonema

arrest of male meiosis ( J:268570 )

endocrine/exocrine glands

decreased testis weight ( J:268570 )

• slight

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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