Phenotypes Associated with This Genotype

Genotype
MGI:2654707

• Allelic Composition: Grip1^tm1Paw/Grip1^tm1Paw
• Genetic Background: involves: 129X1/SvJ * ICR

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

Development of a severe bullous disorder in Grip1^tm1Paw/Grip1^tm1Paw embryos

mortality/aging

prenatal lethality, complete penetrance ( J:79476 )

• Background Sensitivity: time of embryonic death is background dependent

• Background Sensitivity: no viable embryos are detected at E7.5 in a (129X1/SvJ x ICR)F1 heterozygote intercross, while expected Mendelian ratios at E12 and viable embryos are observed at E16 of a (129X1/SvJ x ICR)F3 heterozygote intercross

cardiovascular system

intracranial hemorrhage ( J:79476 )

• hemorrhagic bulla are seen in the head

nervous system

intracranial hemorrhage ( J:79476 )

• hemorrhagic bulla are seen in the head

integument

blistering ( J:79476 )

• blisters form on the head, limbs, spinal cord, in the lateral ventricle of the brain, and in the meninges covering the cerebral cortex at E12 in progeny of (129X1/SvJ x ICR)F3 heterozygote intercross

• blister characterization shows cleavage of the dermo-epidermal junction below the lamina densa

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
recessive dystrophic epidermolysis bullosa		DOID:0060642	OMIM:226600	J:79476