Phenotypes Associated with This Genotype

Genotype
MGI:5564953

• Allelic Composition: Fras1^bfb/Fras1^bfb
• Genetic Background: involves: C57BL/6JAnu

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

Blood-filled blisters across the eye and the distal hindlimbs in Fras1^bfb/Fras1^bfb embryos

craniofacial

craniofacial phenotype ( J:208682 )

N • mice do not exhibit cleft of the lip and/or primary palate

abnormal palatal shelf morphology ( J:208682 )

• delayed palatal shelf growth at E14.5

abnormal palatal shelf fusion at midline ( J:208682 )

• formation of a blister-like structure between the palatal shelves and nasal septum in mice without over cleft palate at E15.5

cleft secondary palate ( J:208682 )

• in some mice at E18.5

• complete in the majority of cases; partial in remaining cases

complete cleft palate ( J:208682 )

skeleton

abnormal sternum morphology ( J:208682 )

• in most mice

abnormal sternebra morphology ( J:208682 )

• second and fifth sternebrae are bipartite resulting in misalignment of corresponding ribs in most mice

• however, the first and last sternebrae appear normal

abnormal rib morphology ( J:208682 )

• second and fifth sternebrae are bipartite resulting in misalignment of corresponding ribs in most mice

integument

subcutaneous hemorrhage ( J:208682 )

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

bleb ( J:208682 )

blistering ( J:208682 )

• 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

small kidney ( J:208682 )

• absent or severely reduced in most mice

absent kidney ( J:208682 )

• absent or severely reduced in most mice

vision/eye

narrow eye opening ( J:208682 )

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

cardiovascular system

subcutaneous hemorrhage ( J:208682 )

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

limbs/digits/tail

preaxial polydactyly ( J:208682 )

• in the hindlimbs

• however, forelimbs never present with digit anomalies

digestive/alimentary system

abnormal palatal shelf morphology ( J:208682 )

• delayed palatal shelf growth at E14.5

abnormal palatal shelf fusion at midline ( J:208682 )

• formation of a blister-like structure between the palatal shelves and nasal septum in mice without over cleft palate at E15.5

cleft secondary palate ( J:208682 )

• in some mice at E18.5

• complete in the majority of cases; partial in remaining cases

complete cleft palate ( J:208682 )

growth/size/body

abnormal palatal shelf morphology ( J:208682 )

• delayed palatal shelf growth at E14.5

abnormal palatal shelf fusion at midline ( J:208682 )

• formation of a blister-like structure between the palatal shelves and nasal septum in mice without over cleft palate at E15.5

cleft secondary palate ( J:208682 )

• in some mice at E18.5

• complete in the majority of cases; partial in remaining cases

complete cleft palate ( J:208682 )

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