Phenotypes associated with this allele

• Allele Symbol: Grip1^eb
• Allele Name: eye blebs
• Allele ID: MGI:1856852
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Grip1^eb/Grip1^eb	involves: ATEB/Le * C57BL/6J	MGI:3665402
hm2	Grip1^eb/Grip1^eb	involves: hairless stock	MGI:3665403

Genotype
MGI:3665402

hm1

• Allelic Composition: Grip1^eb/Grip1^eb
• Genetic Background: involves: ATEB/Le * C57BL/6J

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:64538 )

• mutants with aberrant neural tube development do not survive birth

growth/size/body

polycystic kidney ( J:64538 )

• on rare occasions, kidneys are polycystic

decreased body size ( J:64538 )

vision/eye

eye hemorrhage ( J:64538 )

• the eye fills with blood as development proceeds, resulting in hematoma that distorts the shape of the iris

abnormal eye morphology ( J:64538 )

• mutants exhibiting the eye phenotypes do not exhibit neural tube defects

• eyes beneath the closed lids are covered with a tough connective tissue layer

• observe accumulation of clear fluid and cell debris in the orbit beneath the closed eyelid after birth such that the shape of the face is distorted

abnormal iris morphology ( J:64538 )

• iris is folded and irregular in shape and thickness in juveniles

abnormal cornea epithelium morphology ( J:64538 )

• the corneal epithelium is often attached to the overlying lid and becomes folded and irregular in juveniles

• adult corneal epithelium differs in thickness along any diameter across the cornea and the cells are irregularly shaped and accumulate at the limbus

abnormal cornea thickness ( J:64538 )

• adult corneas are uneven in thickness

abnormal cornea stroma morphology ( J:64538 )

• corneal stroma shows disorganized keratocytes and occasional acellularity in juveniles

cornea opacity ( J:64538 )

• adult corneas are cloudy

aphakia ( J:64538 )

• adults show a partial or absent lens

cataract ( J:64538 )

• lenses appear cataractous during juvenile development

abnormal eye development ( J:64538 )

• blood-filled blisters develop over the eye starting at E11.5

abnormal lens development ( J:64538 )

• the lens is often smooth, unencapsulated with no apparent nucleus, and has no obvious anterior chamber at E16.5

• juveniles show incompletely detached lenses from the surface ectoderm which begin to degenerate and become irregularly shaped, polycystic, cataractous, vacuolated, disorganized, and often bisected by part of the iris

abnormal lens vesicle development ( J:64538 )

• at E11.5, the eye cup forms normally but the lens vesicle does not always separate completely from the head ectoderm

microphthalmia ( J:64538 )

• adults show varied eye size from normal to small

abnormal eyelid morphology ( J:64538 )

• at E16.5, the eyelid is often not directly centered over the eyeball

eyelids open at birth ( J:64538 )

• eyelids fail to close and mutants are born with open eyes

• eyelids are completely opened or only partially closed at E16.5

retina fold ( J:64538 )

• adults exhibit retinal folding

cardiovascular system

abnormal blood vessel morphology ( J:64538 )

• exhibit increased vascularization throughout the developing eye and head region, starting at E11.5

eye hemorrhage ( J:64538 )

• the eye fills with blood as development proceeds, resulting in hematoma that distorts the shape of the iris

homeostasis/metabolism

abnormal blood coagulation ( J:64538 )

• blood accumulates readily in the eye and exhibits decreased clotting

nervous system

abnormal neural tube morphology ( J:64538 )

• mutants without obvious eye defects show an irregularly shaped neural tube that is improperly aligned for closure at E11.5

open neural tube ( J:64538 )

• mutants without obvious eye defects exhibit disruption of neural tube closure in the anterior and hindbrain neuropores and are born with open neural tubes

abnormal brain morphology ( J:64538 )

• occasionally see clear fluid-filled blisters on the surface of the developing brain

renal/urinary system

polycystic kidney ( J:64538 )

• on rare occasions, kidneys are polycystic

single kidney ( J:64538 )

• on rare occasions, a kidney is missing

embryo

abnormal neural tube morphology ( J:64538 )

• mutants without obvious eye defects show an irregularly shaped neural tube that is improperly aligned for closure at E11.5

open neural tube ( J:64538 )

• mutants without obvious eye defects exhibit disruption of neural tube closure in the anterior and hindbrain neuropores and are born with open neural tubes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:111788

Genotype
MGI:3665403

hm2

• Allelic Composition: Grip1^eb/Grip1^eb
• Genetic Background: involves: hairless stock

vision/eye

microphthalmia ( J:12164 , J:13412 )

• the eye-bulb is absent or very small when a large bleb is present or only slightly reduced in size as a result of a small ruptured bleb (J:12164)

• 258 of 335 show anophthalmia or microphthalmia on one or both sides (J:13412)

anophthalmia ( J:12164 , J:13412 )

• the eye-bulb is absent or very small when a large bleb is present (J:12164)

• 258 of 335 show anophthalmia or microphthalmia on one or both sides (J:13412)

limbs/digits/tail

abnormal limb morphology ( J:12164 )

• a foot may be absent or distorted in direct correlation with the extent and location of the bleb

syndactyly ( J:13412 )

• 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot

interdigital webbing ( J:13412 )

• 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot

clubfoot ( J:13412 )

• 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot

absent limbs ( J:12164 )

• a foot may be absent or distorted in direct correlation with the extent and location of the bleb

renal/urinary system

kidney cyst ( J:13412 )

• 158 of 335 show small, missing, or cystic kidneys on one or both sides

small kidney ( J:13412 )

• 158 of 335 show small, missing, or cystic kidneys on one or both sides

absent kidney ( J:13412 )

• 158 of 335 show small, missing, or cystic kidneys on one or both sides

cardiovascular system

hemorrhage ( J:12164 )

• blisters become hemorrhagic during E13-14 and the hemorrhagic blebs show that small vessels have openings into the bleb

integument

bleb ( J:12164 )

• clear blisters of fluid appear in the hypodermis of the eyelids and the apical areas of the limbs during E12-13

• blisters/blebs enlarge and become hemorrhagic during E13-14 and persist during the intrauterine period but rupture soon after birth

growth/size/body

kidney cyst ( J:13412 )

• 158 of 335 show small, missing, or cystic kidneys on one or both sides

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
clubfoot		DOID:11836	OMIM:119800	J:13412