All Phenotypes Brca1<tm2.1Cxd> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Brca1^tm2.1Cxd
targeted mutation 2.1, Chu-Xia Deng
MGI:2182470

Summary

14 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd	involves: 129S6/SvEvTac	MGI:2681549
hm2	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd	involves: 129S6/SvEvTac * C57BL/6	MGI:5494456
cn3	Brca1^tm2.1Cxd/Brca1^tm2Rjbr Trp53^tm3Tyj/Trp53⁺ Wap^tm1(cre)Arge/Wap⁺	involves: 129S1/Sv * 129S4/SvJae * 129S6/SvEvTac * C57BL/6	MGI:5494458
cn4	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53^tm3Tyj/Trp53⁺ Wap^tm1(cre)Arge/Wap⁺	involves: 129S1/Sv * 129S4/SvJae * 129S6/SvEvTac * C57BL/6	MGI:5494460
cn5	Brca1^tm2.1Cxd/Brca1^tm3.1Rjbr Trp53^tm3Tyj/Trp53⁺ Wap^tm1(cre)Arge/Wap⁺	involves: 129S1/Sv * 129S4/SvJae * 129S6/SvEvTac * C57BL/6	MGI:5494461
cn6	Brca1^tm2.1Cxd/Brca1^tm3.1Rjbr Wap^tm1(cre)Arge/Wap⁺	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6	MGI:5494459
cx7	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53bp1^tm1Jc/Trp53bp1^tm1Jc	involves: 129 * 129S6/SvEvTac	MGI:6739937
cx8	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Parp1^tm1Zqw/Parp1^tm1Zqw	involves: 129S2/SvPas * 129S6/SvEvTac	MGI:4360485
cx9	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53^tm1Brd/Trp53⁺	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:4360339
cx10	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53^tm1Brd/Trp53^tm1Brd	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:4360340
cx11	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Gadd45a^tm1Ajf/Gadd45a^tm1Ajf	involves: 129S6/SvEvTac * 129S7/SvEvBrd * Black Swiss * C57BL/6	MGI:4360343
cx12	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53^tm1Brd/Trp53⁺	involves: 129S6/SvEvTac * 129S7/SvEvBrd * Black Swiss * FVB	MGI:4360341
cx13	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Cdkn1a^tm1Led/Cdkn1a^tm1Led	involves: 129S6/SvEvTac * 129S7/SvEvBrd * Black Swiss * FVB	MGI:4360342
cx14	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Shld1^em1Nus/Shld1^em1Nus	involves: 129S6/SvEvTac * C57BL/6NCrl	MGI:6739936

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd
Genetic Background	involves: 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2.1Cxd mutation (1 available); any Brca1 mutation (113 available)

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

mortality/aging

prenatal lethality, complete penetrance ( J:70271 )

• no newborn homozygotes

embryo

decreased embryo size ( J:70271 )

• embryos normal or somewhat smaller in size between E9.5 and E11.5

• embryonic abnormalities begin to appear from E12.5 on

nervous system

abnormal nervous system morphology ( J:70271 )

• massive apoptosis in the nervous system

exencephaly ( J:70271 )

• in 10% of embryos

• half show sac-like structure of variable size on their back

cellular

abnormal cell adhesion ( J:134494 )

• elevated adhesion rate for homozygous MEFs

abnormal cell death ( J:70271 )

• random cell death throughout the body

increased cellular sensitivity to gamma-irradiation ( J:81541 )

• thymocytes display increased sensitivity to induced apoptosis

increased apoptosis ( J:70271 )

• massive apoptosis in the nervous system

abnormal cell migration ( J:134494 )

• elevated invasive rates for MEFs using a Boyden chamber system

chromosomal instability ( J:307190 )

• PARPi-induced genome instability is increased in primary B cells

growth/size/body

decreased embryo size ( J:70271 )

• embryos normal or somewhat smaller in size between E9.5 and E11.5

• embryonic abnormalities begin to appear from E12.5 on

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd
Genetic Background	involves: 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2.1Cxd mutation (1 available); any Brca1 mutation (113 available)

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

cellular

abnormal centrosome morphology ( J:177853 )

• mouse embryonic fibroblasts exhibit centrosome amplification (cells with greater than 2 centrosomes)

decreased fibroblast proliferation ( J:177853 )

• of mouse embryonic fibroblasts

early cellular replicative senescence ( J:177853 )

• in mouse embryonic fibroblasts

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm2Rjbr Trp53^tm3Tyj/Trp53⁺ Wap^tm1(cre)Arge/Wap⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2.1Cxd mutation (1 available); any Brca1 mutation (113 available)
Brca1^tm2Rjbr mutation (1 available); any Brca1 mutation (113 available)
Trp53^tm3Tyj mutation (3 available); any Trp53 mutation (232 available)
Wap^tm1(cre)Arge mutation (0 available); any Wap mutation (33 available)

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

neoplasm

decreased tumor latency ( J:177853 )

• 308 days compared with 380 days in Trp53^tm3Tyj Wap^tm1(cre)Arge double heterozygotes

• however, latency is similar to in Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53^tm3Tyj/Trp53⁺ Wap^tm1(cre)Arge/Wap⁺

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53^tm3Tyj/Trp53⁺ Wap^tm1(cre)Arge/Wap⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2.1Cxd mutation (1 available); any Brca1 mutation (113 available)
Trp53^tm3Tyj mutation (3 available); any Trp53 mutation (232 available)
Wap^tm1(cre)Arge mutation (0 available); any Wap mutation (33 available)

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

neoplasm

decreased tumor latency ( J:177853 )

• 308 days compared with 380 days in Trp53^tm3Tyj Wap^tm1(cre)Arge double heterozygotes

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm3.1Rjbr Trp53^tm3Tyj/Trp53⁺ Wap^tm1(cre)Arge/Wap⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2.1Cxd mutation (1 available); any Brca1 mutation (113 available)
Brca1^tm3.1Rjbr mutation (1 available); any Brca1 mutation (113 available)
Trp53^tm3Tyj mutation (3 available); any Trp53 mutation (232 available)
Wap^tm1(cre)Arge mutation (0 available); any Wap mutation (33 available)

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

neoplasm

increased tumor latency ( J:177853 )

• compared with Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53^tm3Tyj/Trp53^tm3Tyj Wap^tm1(cre)Arge/Wap^tm1(cre)Arge

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm3.1Rjbr Wap^tm1(cre)Arge/Wap⁺
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2.1Cxd mutation (1 available); any Brca1 mutation (113 available)
Brca1^tm3.1Rjbr mutation (1 available); any Brca1 mutation (113 available)
Wap^tm1(cre)Arge mutation (0 available); any Wap mutation (33 available)

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

neoplasm

neoplasm ( J:177853 )

N	• unlike in mice with Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Wap^tm1(cre)Arge/Wap⁺, mice remain tumor free over a 24-month observation period

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53bp1^tm1Jc/Trp53bp1^tm1Jc
Genetic Background	involves: 129 * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2.1Cxd mutation (1 available); any Brca1 mutation (113 available)
Trp53bp1^tm1Jc mutation (1 available); any Trp53bp1 mutation (100 available)

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

immune system

abnormal class switch recombination ( J:307190 )

• mice show defects in IgG1 class switch recombination

hematopoietic system

abnormal class switch recombination ( J:307190 )

• mice show defects in IgG1 class switch recombination

cellular

chromosomal instability ( J:307190 )

• PARPi-induced genome instability is lower in primary B cells compared to that seen in homozygous Brca1 mutant cells but still increased compared to in wild-type cells

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Parp1^tm1Zqw/Parp1^tm1Zqw
Genetic Background	involves: 129S2/SvPas * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2.1Cxd mutation (1 available); any Brca1 mutation (113 available)
Parp1^tm1Zqw mutation (3 available); any Parp1 mutation (66 available)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:139260 )

• death occurs between E12.5 and E15.5

• no double homozygotes survive beyond E15.5

growth/size/body

decreased embryo size ( J:139260 )

• embryos are significantly smaller than normal

• development is apparently normal until death occurs between E12.5 and E15.5

nervous system

exencephaly ( J:139260 )

• in about 1/3 of homozygotes

• failure of anterior neural tube to close

• elevated apoptosis in the neuroepithelium

cellular

abnormal centrosome morphology ( J:139260 )

• 40% of MEFs with more than 2 centrosomes

abnormal chromosome morphology ( J:139260 )

• quadriradial stuctures in metaphase

aneuploidy ( J:139260 )

• 45% of MEFs display aneuploidy

decreased telomere length ( J:139260 )

• MEFs have shortened telomeres

decreased cell proliferation ( J:139260 )

• poor growth of MEFs derived at E14.5

embryo

decreased embryo size ( J:139260 )

• embryos are significantly smaller than normal

• development is apparently normal until death occurs between E12.5 and E15.5

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53^tm1Brd/Trp53⁺
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2.1Cxd mutation (1 available); any Brca1 mutation (113 available)
Trp53^tm1Brd mutation (5 available); any Trp53 mutation (232 available)

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

mortality/aging

mortality/aging ( J:70271 )

N	• survival to birth is normal

increased susceptibility to xenobiotic induced morbidity/mortality ( J:122899 )

• increased sensitivity to paraquat induced lethality

premature death ( J:81541 )

• die shortly after developing respiratory difficulty

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:70271 )

N	• normal mammary gland development

enlarged thymus ( J:81541 )

• seen on autopsy of mice that die prematurely

• enlarged thymus takes up most of the free space in the thorax

increased mammary gland tumor incidence ( J:70271 )

• develop mammary gland tumors by 6-10 months of age

increased T cell derived lymphoma incidence ( J:81541 )

• develop in many mice

• lymphomas display a loss of heterozygocity at the Trp53 locus

• lymphoma cells display aneuploidy

• various chromosomal aberrations such as double minute chromosomes are greatly increased in frequency

neoplasm

increased mammary gland tumor incidence ( J:70271 )

• develop mammary gland tumors by 6-10 months of age

increased T cell derived lymphoma incidence ( J:81541 )

• develop in many mice

• lymphomas display a loss of heterozygocity at the Trp53 locus

• lymphoma cells display aneuploidy

• various chromosomal aberrations such as double minute chromosomes are greatly increased in frequency

increased incidence of tumors by chemical induction ( J:122899 )

• increased incidence of esophageal tumors when treated with methyl N-amylnitrosamine

increased carcinoma incidence ( J:122899 )

• stomach and esophageal dysplasia and carcinomas at 8 month

• invasive carcinomas at 8-12 months

cellular

abnormal cell cycle checkpoint function ( J:70271 )

• partial or complete loss of G1 to S checkpoint control

increased embryonic tissue cell apoptosis ( J:70271 )

• in E14.5 embryos but still less than when both Trp53 alleles are normal

increased fibroblast proliferation ( J:70271 )

• embryonic fibroblasts (MEFs) grow better in culture than when both Trp53 alleles are normal

immune system

enlarged thymus ( J:81541 )

• seen on autopsy of mice that die prematurely

• enlarged thymus takes up most of the free space in the thorax

respiratory system

respiratory distress ( J:81541 )

• develop breathing difficulties and become sick

digestive/alimentary system

abnormal esophageal epithelium morphology ( J:122899 )

• hyperkeratosis at 6 months

• increased cell proliferation in the basal layers

• hyperplasia and metaplasia at 6 months

• dysplasia and carcinomas at 8 months

abnormal stomach epithelium morphology ( J:122899 )

• hyperkeratosis of the forestomach at 6 months

• increased cell proliferation in the basal layers

• hyperplasia and metaplasia at 6 months

• dysplasia and carcinomas at 8 months

homeostasis/metabolism

increased susceptibility to xenobiotic induced morbidity/mortality ( J:122899 )

• increased sensitivity to paraquat induced lethality

increased incidence of tumors by chemical induction ( J:122899 )

• increased incidence of esophageal tumors when treated with methyl N-amylnitrosamine

hematopoietic system

enlarged thymus ( J:81541 )

• seen on autopsy of mice that die prematurely

• enlarged thymus takes up most of the free space in the thorax

embryo

increased embryonic tissue cell apoptosis ( J:70271 )

• in E14.5 embryos but still less than when both Trp53 alleles are normal

integument

increased mammary gland tumor incidence ( J:70271 )

• develop mammary gland tumors by 6-10 months of age

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53^tm1Brd/Trp53^tm1Brd
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd

Find Mice

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

neoplasm

increased T cell derived lymphoma incidence ( J:81541 )

• lymphoma cells display polyploidy

endocrine/exocrine glands

increased T cell derived lymphoma incidence ( J:81541 )

• lymphoma cells display polyploidy

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Gadd45a^tm1Ajf/Gadd45a^tm1Ajf
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd * Black Swiss * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2.1Cxd mutation (1 available); any Brca1 mutation (113 available)
Gadd45a^tm1Ajf mutation (2 available); any Gadd45a mutation (15 available)

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

Exencephaly and growth retardation in Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Gadd45a^tm1Ajf/Gadd45a^tm1Ajf embryos

mortality/aging

prenatal lethality, complete penetrance ( J:91673 )

• no double homozygotes at birth

• embryos normal at E9.5-E10.5

• smaller than normal at E11.5 to E15.5 with many dying or dead

nervous system

exencephaly ( J:91673 )

• failure of anterior neural tube to close

• neuroepithelium of mutant brain fail to develop after E9.5

• higher rate of apoptosis in the neuroepithelium

cellular

abnormal centrosome morphology ( J:91673 )

• about 45% of MEFs have more than two centrosomes

• about 28% of cells in E9.5 embryos have more than two centrosomes

aneuploidy ( J:91673 )

• about 40% of MEFs are aneuploid at passage 2

embryo

embryonic growth retardation ( J:91673 )

growth/size/body

embryonic growth retardation ( J:91673 )

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53^tm1Brd/Trp53⁺
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd * Black Swiss * FVB

Find Mice

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

mortality/aging

premature death ( J:81559 )

• 30% of males die of lymphoma by 7 months of age

• most males are dead by 12 months of age

premature aging ( J:81559 )

• 8 month and older males develop aging phenotypes

• aging phenotypes also seen in female mice

growth/size/body

decreased body weight ( J:81559 )

• greatly reduced body weight

skeleton

kyphosis ( J:81559 )

abnormal bone structure ( J:81559 )

decreased compact bone thickness ( J:81559 )

abnormal trabecular bone morphology ( J:81559 )

• loss of trabecular bone

osteoporosis ( J:81559 )

homeostasis/metabolism

increased physiological sensitivity to xenobiotic ( J:81559 )

• reduced anaesthetic stress tolerance

impaired wound healing ( J:81559 )

• reduced re-epithelialization at wound edges

adipose tissue

decreased subcutaneous adipose tissue amount ( J:81559 )

• reduced subcutaneous adipose tissue

decreased total body fat amount ( J:81559 )

• adipose tissue generally reduced

muscle

muscular atrophy ( J:81559 )

neoplasm

increased tumor incidence ( J:81559 )

• increased tumorigenesis in females

reproductive system

meiotic nondisjunction ( J:82308 )

• homologous chromosomes synapse but fail to separate

increased male germ cell apoptosis ( J:82308 )

• apoptotic spermatocytes in seminiferous tubules increased at 16 and 21 days of age relative to controls

small testis ( J:82308 )

• significantly smaller than controls at 16 days of age

abnormal spermatogenesis ( J:82308 )

azoospermia ( J:82308 )

• males over six weeks of age lack spermatozoa in the testes

• testes histologically normal at 10 days

abnormal spermatid morphology ( J:82308 )

• no spermatids present at 21 days of age

abnormal male meiosis ( J:82308 )

• no diplotene stage spermatocytes detected at 16 days of age

arrest of male meiosis ( J:82308 )

• spermatogenesis does not progress beyond meiosis I

• spermatocytes do not pass through pachytene stage

endocrine/exocrine glands

small testis ( J:82308 )

• significantly smaller than controls at 16 days of age

cellular

azoospermia ( J:82308 )

• males over six weeks of age lack spermatozoa in the testes

• testes histologically normal at 10 days

abnormal spermatid morphology ( J:82308 )

• no spermatids present at 21 days of age

abnormal male meiosis ( J:82308 )

• no diplotene stage spermatocytes detected at 16 days of age

arrest of male meiosis ( J:82308 )

• spermatogenesis does not progress beyond meiosis I

• spermatocytes do not pass through pachytene stage

meiotic nondisjunction ( J:82308 )

• homologous chromosomes synapse but fail to separate

increased male germ cell apoptosis ( J:82308 )

• apoptotic spermatocytes in seminiferous tubules increased at 16 and 21 days of age relative to controls

decreased cell proliferation ( J:81559 )

• of MEFs

integument

decreased subcutaneous adipose tissue amount ( J:81559 )

• reduced subcutaneous adipose tissue

delayed hair regrowth ( J:81559 )

• reduced hair regeneration

thin dermal layer ( J:81559 )

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Cdkn1a^tm1Led/Cdkn1a^tm1Led
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd * Black Swiss * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2.1Cxd mutation (1 available); any Brca1 mutation (113 available)
Cdkn1a^tm1Led mutation (1 available); any Cdkn1a mutation (60 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:81559 )

• improved embryonic survival

• death within 24 hours of birth

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Shld1^em1Nus/Shld1^em1Nus
Genetic Background	involves: 129S6/SvEvTac * C57BL/6NCrl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2.1Cxd mutation (1 available); any Brca1 mutation (113 available)
Shld1^em1Nus mutation (0 available); any Shld1 mutation (78 available)

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

immune system

abnormal class switch recombination ( J:307190 )

• mice show defects in IgG1 class switch recombination

hematopoietic system

abnormal class switch recombination ( J:307190 )

• mice show defects in IgG1 class switch recombination

cellular

chromosomal instability ( J:307190 )

• PARPi-induced genome instability is lower in primary B cells compared to that seen in homozygous Brca1 mutant cells but still increased compared to in wild-type cells

mortality/aging

mortality/aging ( J:307190 )

N	• the expected Mendelian ratio of mice are obtained, indicating rescue of the embryonic lethality of homozygous Brca1 mutants

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