About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Grip1eb
eye blebs
MGI:1856852
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Grip1eb/Grip1eb involves: ATEB/Le * C57BL/6J MGI:3665402
hm2
Grip1eb/Grip1eb involves: hairless stock MGI:3665403


Genotype
MGI:3665402
hm1
Allelic
Composition
Grip1eb/Grip1eb
Genetic
Background
involves: ATEB/Le * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grip1eb mutation (1 available); any Grip1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants with aberrant neural tube development do not survive birth (J:64538)
• mutants with aberrant neural tube development do not survive birth (J:64538)

growth/size/body

vision/eye
• the eye fills with blood as development proceeds, resulting in hematoma that distorts the shape of the iris (J:64538)
• the eye fills with blood as development proceeds, resulting in hematoma that distorts the shape of the iris (J:64538)
• mutants exhibiting the eye phenotypes do not exhibit neural tube defects (J:64538)
• eyes beneath the closed lids are covered with a tough connective tissue layer (J:64538)
• 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 (J:64538)
• mutants exhibiting the eye phenotypes do not exhibit neural tube defects (J:64538)
• eyes beneath the closed lids are covered with a tough connective tissue layer (J:64538)
• 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 (J:64538)
• iris is folded and irregular in shape and thickness in juveniles (J:64538)
• iris is folded and irregular in shape and thickness in juveniles (J:64538)
• adult corneas are uneven in thickness (J:64538)
• adult corneas are uneven in thickness (J:64538)
• the corneal epithelium is often attached to the overlying lid and becomes folded and irregular in juveniles (J:64538)
• adult corneal epithelium differs in thickness along any diameter across the cornea and the cells are irregularly shaped and accumulate at the limbus (J:64538)
• the corneal epithelium is often attached to the overlying lid and becomes folded and irregular in juveniles (J:64538)
• adult corneal epithelium differs in thickness along any diameter across the cornea and the cells are irregularly shaped and accumulate at the limbus (J:64538)
• corneal stroma shows disorganized keratocytes and occasional acellularity in juveniles (J:64538)
• corneal stroma shows disorganized keratocytes and occasional acellularity in juveniles (J:64538)
• adult corneas are cloudy (J:64538)
• adult corneas are cloudy (J:64538)
• adults show a partial or absent lens (J:64538)
• adults show a partial or absent lens (J:64538)
• lenses appear cataractous during juvenile development (J:64538)
• lenses appear cataractous during juvenile development (J:64538)
• blood-filled blisters develop over the eye starting at E11.5 (J:64538)
• blood-filled blisters develop over the eye starting at E11.5 (J:64538)
• the lens is often smooth, unencapsulated with no apparent nucleus, and has no obvious anterior chamber at E16.5 (J:64538)
• 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 (J:64538)
• the lens is often smooth, unencapsulated with no apparent nucleus, and has no obvious anterior chamber at E16.5 (J:64538)
• 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 (J:64538)
• at E11.5, the eye cup forms normally but the lens vesicle does not always separate completely from the head ectoderm (J:64538)
• at E11.5, the eye cup forms normally but the lens vesicle does not always separate completely from the head ectoderm (J:64538)
• adults show varied eye size from normal to small (J:64538)
• adults show varied eye size from normal to small (J:64538)
• at E16.5, the eyelid is often not directly centered over the eyeball (J:64538)
• at E16.5, the eyelid is often not directly centered over the eyeball (J:64538)
• eyelids fail to close and mutants are born with open eyes (J:64538)
• eyelids are completely opened or only partially closed at E16.5 (J:64538)
• eyelids fail to close and mutants are born with open eyes (J:64538)
• eyelids are completely opened or only partially closed at E16.5 (J:64538)
• adults exhibit retinal folding (J:64538)
• adults exhibit retinal folding (J:64538)

cardiovascular system
• exhibit increased vascularization throughout the developing eye and head region, starting at E11.5 (J:64538)
• exhibit increased vascularization throughout the developing eye and head region, starting at E11.5 (J:64538)
• the eye fills with blood as development proceeds, resulting in hematoma that distorts the shape of the iris (J:64538)
• the eye fills with blood as development proceeds, resulting in hematoma that distorts the shape of the iris (J:64538)

homeostasis/metabolism
• blood accumulates readily in the eye and exhibits decreased clotting (J:64538)
• blood accumulates readily in the eye and exhibits decreased clotting (J:64538)

nervous system
• mutants without obvious eye defects show an irregularly shaped neural tube that is improperly aligned for closure at E11.5 (J:64538)
• mutants without obvious eye defects show an irregularly shaped neural tube that is improperly aligned for closure at E11.5 (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 (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 (J:64538)
• occasionally see clear fluid-filled blisters on the surface of the developing brain (J:64538)
• occasionally see clear fluid-filled blisters on the surface of the developing brain (J:64538)

renal/urinary system
• on rare occasions, kidneys are polycystic (J:64538)
• on rare occasions, kidneys are polycystic (J:64538)
• on rare occasions, a kidney is missing (J:64538)
• on rare occasions, a kidney is missing (J:64538)

embryogenesis
• mutants without obvious eye defects show an irregularly shaped neural tube that is improperly aligned for closure at E11.5 (J:64538)
• mutants without obvious eye defects show an irregularly shaped neural tube that is improperly aligned for closure at E11.5 (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 (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 (J:64538)

Mouse Models of Human Disease
OMIM ID Ref(s)
Fraser Syndrome 219000 J:111788




Genotype
MGI:3665403
hm2
Allelic
Composition
Grip1eb/Grip1eb
Genetic
Background
involves: hairless stock
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Grip1eb mutation (1 available); any Grip1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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)
• 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)
• 258 of 335 show anophthalmia or microphthalmia on one or both sides (J:13412)
• the eye-bulb is absent or very small when a large bleb is present (J:12164)
• 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)
• 258 of 335 show anophthalmia or microphthalmia on one or both sides (J:13412)

limbs/digits/tail
• a foot may be absent or distorted in direct correlation with the extent and location of the bleb (J:12164)
• a foot may be absent or distorted in direct correlation with the extent and location of the bleb (J:12164)
• 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot (J:13412)
• 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot (J:13412)
• 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot (J:13412)
• 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot (J:13412)
• 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot (J:13412)
• 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot (J:13412)
• a foot may be absent or distorted in direct correlation with the extent and location of the bleb (J:12164)
• a foot may be absent or distorted in direct correlation with the extent and location of the bleb (J:12164)

renal/urinary system
• 158 of 335 show small, missing, or cystic kidneys on one or both sides (J:13412)
• 158 of 335 show small, missing, or cystic kidneys on one or both sides (J:13412)
• 158 of 335 show small, missing, or cystic kidneys on one or both sides (J:13412)
• 158 of 335 show small, missing, or cystic kidneys on one or both sides (J:13412)
• 158 of 335 show small, missing, or cystic kidneys on one or both sides (J:13412)
• 158 of 335 show small, missing, or cystic kidneys on one or both sides (J:13412)

cardiovascular system
• blisters become hemorrhagic during E13-14 and the hemorrhagic blebs show that small vessels have openings into the bleb (J:12164)
• blisters become hemorrhagic during E13-14 and the hemorrhagic blebs show that small vessels have openings into the bleb (J:12164)

integument
• clear blisters of fluid appear in the hypodermis of the eyelids and the apical areas of the limbs during E12-13 (J:12164)
• blisters/blebs enlarge and become hemorrhagic during E13-14 and persist during the intrauterine period but rupture soon after birth (J:12164)
• clear blisters of fluid appear in the hypodermis of the eyelids and the apical areas of the limbs during E12-13 (J:12164)
• blisters/blebs enlarge and become hemorrhagic during E13-14 and persist during the intrauterine period but rupture soon after birth (J:12164)





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory