Phenotypes Associated with This Genotype

Genotype
MGI:3842728

• Allelic Composition: Frem2^my/Frem2^my
• Genetic Background: Not Specified

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:14847 )

• some acephalic and extremely pale embryos are found and these are born dead

vision/eye

abnormal eye development ( J:14847 , J:20762 )

• a clear lesion in the region of the eye is generally found at birth and the severity is greatly variable extending to degeneration of the eye elements (J:14847)

• in cases where only one eye is abnormal it can be the left or right with no preference for one or the other (J:14847)

eye bleb ( J:14847 )

craniofacial

acrania ( J:20762 )

abnormal craniofacial development ( J:14847 )

abnormal facial morphology ( J:14847 )

• shortened foreface and considerable variation in the length and shape of the foreface can be found

short face ( J:14847 )

short snout ( J:14847 )

nervous system

hydrocephaly ( J:14847 )

• in some stillborn

meroanencephaly ( J:20762 )

integument

abnormal skin morphology ( J:20762 )

bleb ( J:14847 )

limbs/digits/tail

abnormal limb morphology ( J:14847 )

• in addition to the eye and facial defects the feet and legs can be impacted to varying degrees including absent, shortened, or malformed digits, hemorrhagic lesions on the digits and legs, twisted foot or paw, or badly distorted leg

preaxial polydactyly ( J:20762 )

syndactyly ( J:20762 )

• of the middle digits

clubfoot ( J:20762 )

growth/size/body

abnormal facial morphology ( J:14847 )

• shortened foreface and considerable variation in the length and shape of the foreface can be found

short face ( J:14847 )

short snout ( J:14847 )

renal/urinary system

absent kidney ( J:20762 )

skeleton

acrania ( J:20762 )

embryo

abnormal embryo development ( J:20762 )

• Background Sensitivity: many systems are affected with variable penetrance