Phenotypes Associated with This Genotype

Genotype
MGI:3665403

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

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

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