Phenotypes Associated with This Genotype

Genotype
MGI:3807529

• Allelic Composition: Flvcr1^tm1Jlab/Flvcr1^tm1Jlab; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:132057 )

• some intrauterine deaths occur between E14.5 and E16.5, but on a congenic background, some homozygous embryos surviving past E7.5 die at E12.5

embryonic lethality during organogenesis, incomplete penetrance ( J:132057 )

• some intrauterine deaths occur at or before E7.5

limbs/digits/tail

abnormal autopod morphology ( J:132057 )

abnormal limb development ( J:132057 )

• Background Sensitivity: at E14.5, limb maturation, hand, and digit maturation are abnormal; more apparent at time of death than on a congenic background

abnormal digit development ( J:132057 )

• at E14.5, digit maturation is abnormal

craniofacial

abnormal craniofacial morphology ( J:132057 )

• Background Sensitivity: more obvious at time of death on mixed background versus congenic

renal/urinary system

renal/urinary system phenotype ( J:132057 )

N • genitourinary system appears grossly normal at E14.5

reproductive system

reproductive system phenotype ( J:132057 )

N • genitourinary system appears grossly normal at E14.5

respiratory system

respiratory system phenotype ( J:132057 )

N • pulmonary system appears grossly normal at E14.5

cardiovascular system

cardiovascular system phenotype ( J:132057 )

N • cardiovascular system appears grossly normal at E14.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Diamond-Blackfan anemia		DOID:1339	OMIM:PS105650	J:132057