Phenotypes Associated with This Genotype

Genotype
MGI:2667203

• Allelic Composition: Fras1^tm1Chpk/Fras1^tm1Chpk
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/10

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:83746 )

• Background Sensitivity: blisters become hemorrhagic and embryos die between E14.5 and E16.5 on a 129;C57BL/10 background

lethality throughout fetal growth and development, incomplete penetrance ( J:83746 )

• Background Sensitivity: on a 129;NMR1 background, the phenotype is slightly milder allowing 50% of embryos to develop to term, half of which survive to adulthood and are fertile

limbs/digits/tail

syndactyly ( J:83746 )

• in various forms, observed in 90% of mice that survive to birth

renal/urinary system

absent kidney ( J:83746 )

• unilateral or bilateral renal agenesis, or dysgenesisi and hypoplasia

vision/eye

cryptophthalmos ( J:83746 )

• mice that survive have permanent fusion of one or both eyelids

integument

blistering ( J:83746 )

• subepidermal blistering in embryos observed in the head region around the eyes and the distal part of the limbs

• blisters become hemorrhagic and embryos die between E14.5 and E16.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:83746