Phenotypes Associated with This Genotype

Genotype
MGI:3796628

• Allelic Composition: Frem2^ne/Frem2^ne
• Genetic Background: STOCK Frem2^ne/GrsrJ

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

Frem2^ne/Frem2^ne mice exhibit eyelid, eye, digit, ear and coat color abnormalities

vision/eye

microphthalmia ( J:136583 )

abnormal eyelid morphology ( J:136583 )

• missing eyelid or closed eyelid is the most predominant feature of this mutation

cryptophthalmos ( J:136583 )

craniofacial

abnormal ear shape ( J:136583 )

• incomplete penetrance for malformed ear pinnae

limbs/digits/tail

syndactyly ( J:136583 )

• fused and malformed digits are found with imcomplete penetrance

fused phalanges ( J:136583 )

hearing/vestibular/ear

abnormal ear shape ( J:136583 )

• incomplete penetrance for malformed ear pinnae

reproductive system

decreased litter size ( J:136583 )

• average 4.5 pups per litter in a homozygoes x heterozygote cross, and average 5.7 pups per litter in a heterozygote x heterozygote cross

pigmentation

irregular coat pigmentation ( J:136583 )

• a minority of homozygotes have a slight discoloration of the fur on the head

skeleton

fused phalanges ( J:136583 )

cardiovascular system

cardiovascular system phenotype ( J:136583 )

N • heart is normal at 2 months of age

renal/urinary system

renal/urinary system phenotype ( J:136583 )

N • kidneys are normal at 2 months of age

integument

irregular coat pigmentation ( J:136583 )

• a minority of homozygotes have a slight discoloration of the fur on the head

growth/size/body

abnormal ear shape ( J:136583 )

• incomplete penetrance for malformed ear pinnae

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:185265 , J:222308