Phenotypes associated with this allele

• Allele Symbol: Brca1^tm1.1Jjon
• Allele Name: targeted mutation 1.1, Jos Jonkers
• Allele ID: MGI:5307254
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Brca1^tm1.1Jjon/Brca1^tm1.1Jjon	involves: C57BL/6J	MGI:5307255
cn2	Brca1^tm1Brn/Brca1^tm1.1Jjon Trp53^tm1Brn/Trp53^tm1Brn Tg(KRT14-cre)8Brn/0	involves: 129P2/OlaHsd * C57BL/6J * FVB/N	MGI:5307256

Genotype
MGI:5307255

hm1

• Allelic Composition: Brca1^tm1.1Jjon/Brca1^tm1.1Jjon
• Genetic Background: involves: C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:178595 )

• embryos are present at E10.5 but absent by E12.5

embryo

embryonic growth retardation ( J:178595 )

• severely delayed at E9.5

growth/size/body

embryonic growth retardation ( J:178595 )

• severely delayed at E9.5

Genotype
MGI:5307256

cn2

• Allelic Composition: Brca1^tm1Brn/Brca1^tm1.1Jjon; Trp53^tm1Brn/Trp53^tm1Brn; Tg(KRT14-cre)8Brn/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N

neoplasm

decreased mammary gland tumor incidence ( J:178595 )

• compared to KB1P littermate controls homozygous

• most mammary tumors are poorly differentiated solid carcinomas

• a small percentage of tumors are classified as carcinosarcomas or lumen forming carcinomas

decreased skin tumor incidence ( J:178595 )

• markedly lower incidence compared to KB1P littermate controls

abnormal tumor pathology ( J:178595 )

• in transplanted tumors response to olaparib treatment is impaired compared to KB1P littermate controls but better than in KP mice

• transplanted tumors develop resistance to cisplatin and survival of transplanted mice is worse than that of mice transplanted with tumors from KB1P mice

abnormal tumor morphology ( J:178595 )

• increased genomic instability in tumors compared to mice homozygous for Trp53^tm1Brn and carrying Tg(KRT14-cre)8Brn (KP mice)

decreased tumor latency ( J:178595 )

• median latency is 197 days compared to 236 days in littermate controls homozygous for Brca1^tm1Brn Trp53^tm1Brn and carrying Tg(KRT14-cre)8Brn (KB1P)

• however, no difference in the latency of mammary tumor development

integument

decreased mammary gland tumor incidence ( J:178595 )

• compared to KB1P littermate controls homozygous

• most mammary tumors are poorly differentiated solid carcinomas

• a small percentage of tumors are classified as carcinosarcomas or lumen forming carcinomas

decreased skin tumor incidence ( J:178595 )

• markedly lower incidence compared to KB1P littermate controls

endocrine/exocrine glands

decreased mammary gland tumor incidence ( J:178595 )

• compared to KB1P littermate controls homozygous

• most mammary tumors are poorly differentiated solid carcinomas

• a small percentage of tumors are classified as carcinosarcomas or lumen forming carcinomas

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
breast cancer		DOID:1612	OMIM:114480	J:178595