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Phenotypes Associated with This Genotype
Genotype
MGI:3665277
Allelic
Composition
Frem1heb/Frem1heb
Genetic
Background
involves: AKR/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Frem1heb mutation (1 available); any Frem1 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• exhibit some fetal death (19 of 104); time not specified

limbs/digits/tail
• 12% exhibit extra toes (J:6609)
• 8 of 85 have extra digit (J:64448)

vision/eye
• 97% of E17-19 mutants have open eyelids
• most newborns have open eyelids (J:64448)
• mutants with open eyelids at birth exhibit folded retinas; those with closed eyelids have normal retinas
• adults show absence of one or both eyes (J:64448)

nervous system
• occasionally observe ectopic brains and 1.9% exhibit brain hernia

integument
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory