Phenotypes Associated with This Genotype

Genotype
MGI:3579981

• Allelic Composition: Fras1^bl/Fras1^bl; Frem2^my-Ucl/Frem2^my-Ucl
• Genetic Background: involves: 101/H * C3H/HeH * NMRI

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:98344 )

• approximately 50% homozygotes died before birth

limbs/digits/tail

syndactyly ( J:98344 )

• cutaneous syndactyly and occasional bony syndactyly and polydactyly

vision/eye

cryptophthalmos ( J:98344 )

renal/urinary system

kidney cortex cyst ( J:98344 )

• adult mice (20 weeks) developed renal cysts

• increased proliferation and apoptosis are seen in these cysts

integument

fetal bleb ( J:98344 )

• shows epithelial "blebbing" during embryogenesis starting at E11.5

growth/size/body

kidney cortex cyst ( J:98344 )

• adult mice (20 weeks) developed renal cysts

• increased proliferation and apoptosis are seen in these cysts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:98344