Phenotypes associated with this allele

• Allele Symbol: Frem2^em2Hali
• Allele Name: endonuclease-mediated mutation 2, Haotian Lin
• Allele ID: MGI:6389578
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Frem2^em2Hali/Frem2^em2Hali	C57BL/6J-Frem2^em2Hali	MGI:6389580
ht2	Frem2^em1Hali/Frem2^em2Hali	C57BL/6J-Frem2^em1Hali Frem2^em2Hali	MGI:6389584

Genotype
MGI:6389580

hm1

• Allelic Composition: Frem2^em2Hali/Frem2^em2Hali
• Genetic Background: C57BL/6J-Frem2^em2Hali

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

vision/eye

cryptophthalmos ( J:279933 )

• one of 2 mice display bilateral congenital complete cryptophthalmos and the other shows unilateral cryptophthalmos

renal/urinary system

single kidney ( J:279933 )

limbs/digits/tail

limbs/digits/tail phenotype ( J:279933 )

N • mice exhibit normal limbs

Genotype
MGI:6389584

ht2

• Allelic Composition: Frem2^em1Hali/Frem2^em2Hali
• Genetic Background: C57BL/6J-Frem2^em1Hali Frem2^em2Hali

vision/eye

abnormal eye morphology ( J:279933 )

• boundaries between the lens and retina are narrower

abnormal anterior eye segment morphology ( J:279933 )

• dysplastic eyes show structural malformation in the anterior segment, including corneal neovascularization, corneal leukoma, and iris synechia

absent ciliary body ( J:279933 )

acoria ( J:279933 )

iris hypoplasia ( J:279933 )

iris synechia ( J:279933 )

• complete iris synechia

abnormal cornea morphology ( J:279933 )

• disorganized or absent cornea

corneal vascularization ( J:279933 )

• dysplastic eyes show corneal neovascularization

abnormal lens morphology ( J:279933 )

• dysplastic eyes show a reduced axial length and reduced lens thickness

cryptophthalmos ( J:279933 )

• mice show bilateral or unilateral congenital complete cryptophthalmos without normal eyelids or auxiliary ocular tissues

• cryptophthalmic eyes are gourd-shaped cysts

• 2 mice born with bilateral cryptophthalmos open one eye at 4 months of age

increased total retina thickness ( J:279933 )

• retinas are thicker

• however, they are layered normally

limbs/digits/tail

syndactyly ( J:279933 )

• 4 of 11 mice exhibit syndactyly

renal/urinary system

single kidney ( J:279933 )

• 8 of 11 mice exhibit a single kidney

cardiovascular system

corneal vascularization ( J:279933 )

• dysplastic eyes show corneal neovascularization

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
isolated cryptophthalmia		DOID:0111717	OMIM:123570	J:279933