Phenotypes associated with this allele

• Allele Symbol: Fat1^tm1Cfc
• Allele Name: targeted mutation 1, Charles ffrench-Constant
• Allele ID: MGI:2662293
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fat1^tm1Cfc/Fat1^tm1Cfc	either: 129/Sv or (involves: 129/Sv * C57BL/6)	MGI:2662296

Genotype
MGI:2662296

hm1

• Allelic Composition: Fat1^tm1Cfc/Fat1^tm1Cfc
• Genetic Background: either: 129/Sv or (involves: 129/Sv * C57BL/6)

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

mortality/aging

postnatal lethality, complete penetrance ( J:83058 )

• pups die within 48 hours of birth

renal/urinary system

fused podocyte foot processes ( J:83058 )

• mutant podocyte processes appear flattened and are closely apposed to one another (fused), forming a sheet of cell processes over the basement membrane

abnormal podocyte slit junction morphology ( J:83058 )

• in homozygotes, the normal gaps (slit junctions) between the podocyte foot processes adjacent to the glomerular basement membrane are absent

• in contrast to the kidney abnormalities, the epithelium of mutant lungs appears unaffected relative to wild-type

vision/eye

retina pigment epithelium atrophy ( J:83058 )

• the mutant retinal pigment layer is malformed and much smaller relative to wild-type

aphakia ( J:83058 )

• in homozygotes, the lens is absent

cyclopia ( J:83058 )

• ~6% of mutant (holoprosencephalic) embryos exhibit cyclopia (a single midline eye) with a midline proboscis protruding above the eye

microphthalmia ( J:83058 )

• ~40% of mutant embryos display microphthalmia-anophthalmia, with one eye or both eyes being either small or absent

• the eye phenotype is variable even within a single embryo (e.g. a severe eye abnormality on one side and normal eye development on the other side); it is associated with increased degeneration and apoptosis

abnormal retina neuronal layer morphology ( J:83058 )

• in homozygotes, the neural retinal layer is missing

anophthalmia ( J:83058 )

• ~40% of mutant embryos display microphthalmia-anophthalmia, with one eye or both eyes being either small or absent

nervous system

holoprosencephaly ( J:83058 )

• ~6% of mutant embryos display abnormal ventral forebrain induction

craniofacial

proboscis ( J:83058 )

• ~6% of mutant (holoprosencephalic) embryos are cyclopic with a midline proboscis protruding above the eye

integument

integument phenotype ( J:83058 )

N • mutant skin displays normal distribution of desmoglein (I and IV), desmocollin (II and VI), desmoplakin (III and VII), and beta-catenin (IV and VIII); no morphological abnormalities are observed

N • also, homozygotes show no evidence of defects in proliferation in the skin and central nervous system

pigmentation

retina pigment epithelium atrophy ( J:83058 )

• the mutant retinal pigment layer is malformed and much smaller relative to wild-type

growth/size/body

proboscis ( J:83058 )

• ~6% of mutant (holoprosencephalic) embryos are cyclopic with a midline proboscis protruding above the eye