Phenotypes associated with this allele

• Allele Symbol: Zfp469^em1Chms
• Allele Name: endonuclease-mediated mutation 1, Chloe M Stanton
• Allele ID: MGI:6765940
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Zfp469^em1Chms/Zfp469^em1Chms	C57BL/6J-Zfp469^em1Chms	MGI:6765943

Genotype
MGI:6765943

hm1

• Allelic Composition: Zfp469^em1Chms/Zfp469^em1Chms
• Genetic Background: C57BL/6J-Zfp469^em1Chms

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

growth/size/body

decreased body size ( J:311083 )

• mice are smaller at 3 months of age

decreased body weight ( J:311083 )

• mice weigh 15-20% less than wild-type mice at 3 months of age

vision/eye

abnormal cornea morphology ( J:311083 )

• corneas show extensive shearing between lamellae

• swelling of the corneal stroma is seen in one female at 1 month of age consistent with an edema

• corneas are more easily distorted by the application of a viscous liquid drop at both 3 and 6 months of age indicating loss of biochemical strength of the corneal stroma

• however, no difference in the number or density of stromal keratocytes in the cornea at 6 months of age

decreased cornea thickness ( J:311083 )

• mice exhibit extremely thin corneas, with a 35% and 30% reduction in central corneal thickness at 1 and 6 months of age, respectively

• thickness of the peripheral cornea is reduced by about 25%

• corneal thinning is apparent during corneal development and is not progressive

• thin corneas of mice up to 9 months of age are not prone to perforation

abnormal cornea stroma morphology ( J:311083 )

• collagen type I, but not collagen type V, is less abundant in the corneal stroma

decreased cornea stroma thickness ( J:311083 )

abnormal cornea stroma collagen fibril morphology ( J:311083 )

• collagen fibril diameter in the anterior stroma is on average 33% reduced

• an increased number of collagen fibrils is seen in a given area of stroma, with fibril density of the smaller diameter fibrils being increased about 25.6%

increased eye anterior chamber depth ( J:311083 )

♀ • anterior chamber depth after pupil dilation is increased in females at 6 months of age

♀ • the anterior chamber depth decreases by only 2.6% after dilation of the pupil compared to a 12% reduction in wild-type mice

♀ • however, anterior chamber depth is not significantly different without dilation of the pupils

exophthalmos ( J:311083 )

♀ • with pupil dilation by administration of tropicamide and phenylephrine hydrochloride, females, but not males, show a bulging eye phenotype consistent with keratoglobus

abnormal cornea physiology ( J:311083 )

• keratocytes adhere less efficiently to fibrinogen and fibronectin in vitro

• primary keratocytes show reduced secretion of pro-Col1a1 into the medium

integument

decreased subcutaneous adipose tissue amount ( J:311083 )

• tail skin shows decreased thickness of the subcutaneous adipose layer at 6 months of age

abnormal dermal layer morphology ( J:311083 )

• dermis shows less collagen, with decreased abundance of collagen type I

thin dermal layer ( J:311083 )

• tail skin shows decreased thickness of the dermal layer at 6 months of age

skin detachment ( J:311083 )

• during euthanasia, three instances of tail degloving (separation of the skin and subcutaneous tissues) were seen

adipose tissue

decreased subcutaneous adipose tissue amount ( J:311083 )

• tail skin shows decreased thickness of the subcutaneous adipose layer at 6 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
brittle cornea syndrome 1		DOID:14775	OMIM:229200	J:311083