Phenotypes associated with this allele

• Allele Symbol: Brca1^em2Njo
• Allele Name: endonuclease-mediated mutation 2, Neil Johnson
• Allele ID: MGI:8460782
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Brca1^em2Njo/Brca1^em2Njo	involves: C3H/HeJ * C57BL/6J	MGI:8460949

Genotype
MGI:8460949

hm1

• Allelic Composition: Brca1^em2Njo/Brca1^em2Njo
• Genetic Background: involves: C3H/HeJ * C57BL/6J

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

endocrine/exocrine glands

ovary atrophy ( J:295420 )

testicular atrophy ( J:295420 )

growth/size/body

decreased birth body size ( J:295420 )

decreased birth weight ( J:295420 )

hematopoietic system

decreased bone marrow cell number ( J:295420 )

decreased erythrocyte cell number ( J:295420 )

decreased leukocyte cell number ( J:295420 )

decreased hematopoietic stem cell number ( J:295420 )

• severe reduction in HSCs and committed progenitor cells

immune system

decreased leukocyte cell number ( J:295420 )

integument

decreased skin pigmentation ( J:295420 )

• on underside

limbs/digits/tail

kinked tail ( J:295420 )

mortality/aging

premature death ( J:295420 )

prenatal lethality, incomplete penetrance ( J:295420 )

• mice are born at lower-than-expected Mendelian ratio; non-surviving embryos die between stage E16.5 and birth

neoplasm

increased T cell acute lymphoblastic leukemia incidence ( J:295420 )

pigmentation

decreased skin pigmentation ( J:295420 )

• on underside

reproductive system

ovary atrophy ( J:295420 )

testicular atrophy ( J:295420 )

infertility ( J:295420 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fanconi anemia		DOID:13636	OMIM:PS227650	J:295420