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Phenotypes Associated with This Genotype
Genotype
MGI:5564953
Allelic
Composition
Fras1bfb/Fras1bfb
Genetic
Background
involves: C57BL/6JAnu
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fras1bfb mutation (1 available); any Fras1 mutation (133 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Blood-filled blisters across the eye and the distal hindlimbs in Fras1bfb/Fras1bfb embryos

craniofacial
N
• mice do not exhibit cleft of the lip and/or primary palate
• delayed palatal shelf growth at E14.5
• in some mice at E18.5
• complete in the majority of cases; partial in remaining cases
• formation of a blister-like structure between the palatal shelves and nasal septum in mice without over cleft palate at E15.5

skeleton
• second and fifth sternebrae are bipartite resulting in misalignment of corresponding ribs in most mice
• however, the first and last sternebrae appear normal
• second and fifth sternebrae are bipartite resulting in misalignment of corresponding ribs in most mice

integument
• clear fluid-filled blisters over the lateral aspects of the head at E12.5, prominent at E15.5
• blood-filled blisters over the eyes at E13.5
• clear fluid-filled blisters on the distal hindlimbs at E13.5 that become hemorrhagic and localized to the distal region of the hind feet and often involves the toes at E15.5
• however, by E18.5 blisters are typically resolved and forelimbs never present with hemorrhagic blisters

renal/urinary system
• absent of severely reduced in most mice
• absent of severely reduced in most mice

vision/eye
• absence of palpebral fissure in most mice after E15.5

cardiovascular system
• residual pooling of blood under the skin at E18.5

limbs/digits/tail
• in the hindlimbs
• however, forelimbs never present with digit anomalies

digestive/alimentary system
• delayed palatal shelf growth at E14.5
• in some mice at E18.5
• complete in the majority of cases; partial in remaining cases
• formation of a blister-like structure between the palatal shelves and nasal septum in mice without over cleft palate at E15.5

growth/size/body
• delayed palatal shelf growth at E14.5
• in some mice at E18.5
• complete in the majority of cases; partial in remaining cases
• formation of a blister-like structure between the palatal shelves and nasal septum in mice without over cleft palate at E15.5

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Fraser syndrome DOID:0090001 OMIM:PS219000
J:208682


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
09/10/2019
MGI 6.14
The Jackson Laboratory