Phenotypes Associated with This Genotype

Genotype
MGI:2657302

• Allelic Composition: Fras1^bl/Fras1^bl
• Genetic Background: involves: 101/H * C3H/HeH

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:83745 )

• most homozygotes die before birth

• however, a few reach adulthood with no signs of skin blistering

limbs/digits/tail

syndactyly ( J:83745 )

• adult homozygotes exhibit distal limb defects, such as syndactyly of the hindlimbs

clubfoot ( J:13501 , J:83745 )

• homozygotes may exhibit clubbed feet or hands (J:13501)

renal/urinary system

kidney cyst ( J:83745 )

• 2 of 146 live-born survivors display grossly cystic kidneys

abnormal kidney development ( J:83745 )

• at E11.5-E15.5, homozygotes show a range of defects in metanephric kidney development, followed by degeneration of early metanephric rudiments

• however, 20% of homozygous mutant embryos display a relatively normal metanephric development, including formation of glomeruli by E15.5

abnormal metanephric mesenchyme morphology ( J:83745 )

• by E13.5-E14.5, the metanephric mesenchyme is poorly differentiated with many cells containing pyknotic nuclei suggestive of apoptosis

increased metanephric mesenchyme apoptosis ( J:83745 )

• by E13.5-E14.5, many cells contain pyknotic nuclei suggesting apoptosis

abnormal metanephros morphology ( J:83745 )

• at E11.5-E15.5, some homozygotes display small and pooorly differentiated metanephroi, followed by degeneration of early metanephric rudiments

delayed kidney development ( J:83745 )

• by E13.5-E14.5, mutant kidneys appear developmentally delayed and are much smaller than those of wild-type mice

small kidney ( J:83745 )

• at E13.5-E14.5

absent kidney ( J:13501 , J:83745 )

• homozygotes may lack one or both kidneys (J:13501)

single kidney ( J:13501 , J:83745 )

• homozygotes may exhibit only one kidney (J:13501)

• 20 of 146 live-born survivors display complete unilateral renal agenesis (J:83745)

abnormal ureteric bud morphology ( J:83745 )

• at E11.5-E12.5, homozygous mutant embryos exhibit a dilated uteric bud

impaired branching involved in ureteric bud morphogenesis ( J:83745 )

• at E11.5-E12.5, homozygous mutant embryos display reduced ureteric bud branching relative to wild-type embryos

vision/eye

microphthalmia ( J:13501 )

• homozygotes display reduced eyes

cryptophthalmos ( J:83745 )

• adult homozygotes display cryptophthalmos

integument

abnormal hair growth ( J:13501 )

• homozygotes often display abnormal hair development between the eyes

bleb ( J:13501 )

• blebs are still visible at birth

fetal bleb ( J:83745 )

• at E14.5, homozygotes display prominent blebs over the rump and smaller blebs over the head and forelimb

• however, homozygotes that survive and are live-born show no signs of skin blistering

cellular

increased metanephric mesenchyme apoptosis ( J:83745 )

• by E13.5-E14.5, many cells contain pyknotic nuclei suggesting apoptosis

abnormal basement membrane morphology ( J:83745 )

• separation of the basement membrane from the dermis occurs at ~E11.5, prior to the development of overt blebs

embryo

increased metanephric mesenchyme apoptosis ( J:83745 )

• by E13.5-E14.5, many cells contain pyknotic nuclei suggesting apoptosis

growth/size/body

kidney cyst ( J:83745 )

• 2 of 146 live-born survivors display grossly cystic kidneys

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
clubfoot		DOID:11836	OMIM:119800	J:83745
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:83745