Phenotypes Associated with This Genotype

Genotype
MGI:3665277

• Allelic Composition: Frem1^heb/Frem1^heb
• Genetic Background: involves: AKR/J

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:64448 )

• exhibit some fetal death (19 of 104); time not specified

limbs/digits/tail

polydactyly ( J:64448 , J:6609 )

• 8 of 85 have extra digit (J:64448)

• 12% exhibit extra toes (J:6609)

vision/eye

early eyelid opening ( J:64448 )

• 97% of E17-19 mutants have open eyelids

eyelids open at birth ( J:64448 , J:6609 )

• most newborns have open eyelids (J:64448)

retina fold ( J:6609 )

• mutants with open eyelids at birth exhibit folded retinas

• those with closed eyelids have normal retinas

anophthalmia ( J:64448 , J:6609 )

• adults show absence of one or both eyes (J:64448)

nervous system

abnormal brain morphology ( J:6609 )

• occasionally observe ectopic brains and 1.9% exhibit brain hernia

integument

abnormal epidermal layer morphology ( J:6609 )

bleb ( J:64448 )

• 81% exhibit epidermal blebs on the head at E12-19, usually on the nose or on or near the eye

• exhibit blebs on the head, first apparent at E12-14 as blisters filled with clear fluid and by E15-16, the blebs are filled with blood

blistering ( J:6609 )

• 10.5% exhibit blistered or abnormal feet

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:92613