Mouse Genome Informatics
hm1
    Grip1eb/Grip1eb
involves: ATEB/Le * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mutants with aberrant neural tube development do not survive birth

growth/size

vision/eye
• the eye fills with blood as development proceeds, resulting in hematoma that distorts the shape of the iris
• 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
• iris is folded and irregular in shape and thickness in juveniles
• adult corneas are uneven in thickness
• 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
• corneal stroma shows disorganized keratocytes and occasional acellularity in juveniles
• adult corneas are cloudy
• adults show a partial or absent lens
• lenses appear cataractous during juvenile development
• blood-filled blisters develop over the eye starting at E11.5
• 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
• at E11.5, the eye cup forms normally but the lens vesicle does not always separate completely from the head ectoderm
• adults show varied eye size from normal to small
• at E16.5, the eyelid is often not directly centered over the eyeball
• eyelids fail to close and mutants are born with open eyes
• eyelids are completely opened or only partially closed at E16.5
• adults exhibit retinal folding

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

homeostasis/metabolism
• blood accumulates readily in the eye and exhibits decreased clotting

nervous system
• mutants without obvious eye defects show an irregularly shaped neural tube that is improperly aligned for closure at E11.5
• mutants without obvious eye defects exhibit disruption of neural tube closure in the anterior and hindbrain neuropores and are born with open neural tubes
• occasionally see clear fluid-filled blisters on the surface of the developing brain

renal/urinary system
• on rare occasions, kidneys are polycystic
• on rare occasions, a kidney is missing

embryogenesis
• mutants without obvious eye defects show an irregularly shaped neural tube that is improperly aligned for closure at E11.5
• 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
OMIM IDRef(s)
Fraser Syndrome 219000 J:111788


Mouse Genome Informatics
hm2
    Grip1eb/Grip1eb
involves: hairless stock
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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)
• 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)
• 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
• 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot
• 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot
• 145 of 335 show clubbed feet, webbed toes, or extra digits on one or both sides, usually involving the hind foot
• a foot may be absent or distorted in direct correlation with the extent and location of the bleb

renal/urinary system
• 158 of 335 show small, missing, or cystic kidneys on one or both sides
• 158 of 335 show small, missing, or cystic kidneys on one or both sides
• 158 of 335 show small, missing, or cystic kidneys on one or both sides

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

integument
• 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