Phenotypes Associated with This Genotype

Genotype
MGI:3665237

• Allelic Composition: Frem1^tm1Ksek/Frem1^tm1Ksek
• Genetic Background: involves: 129 * C57BL/6

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

Phenotypes and electron microscopy of Frem1^tm1Ksek/Frem1^tm1Ksek mice

limbs/digits/tail

syndactyly ( J:111788 )

vision/eye

cryptophthalmos ( J:111788 )

renal/urinary system

absent kidney ( J:111788 )

integument

blistering ( J:111788 )

• exhibit subepidermal blistering occurring between the lamina densa of the basement membrane and the underlying dermis at E14.5

skeleton

premature metopic suture closure ( J:177282 )

• mutants exhibit complete fusion of the posterior frontal suture at postnatal day 28 compared to day 45 in controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:111788