Phenotypes Associated with This Genotype

Genotype
MGI:4360909

• Allelic Composition: Adam9^tm1Bbl/Adam9^tm1Bbl
• Genetic Background: involves: 129

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

cellular

increased keratinocyte migration ( J:161698 )

• increased migration rate to mutant wound sites

homeostasis/metabolism

enhanced wound healing ( J:161698 )

• mutant mice show accelerated wound repair compared with controls

• re-epithelialization was significantly faster in mutant wounds than control wounds

integument

increased keratinocyte migration ( J:161698 )

• increased migration rate to mutant wound sites

neoplasm

decreased tumor growth/size ( J:148993 )

• tumor growth from heterotopically injected B16F0 melanoma cells was reduced in mutant mice

cardiovascular system

abnormal induced retina neovascularization ( J:148993 )

• pathological neovascularization in both oxygen-induced retinopathy (OIR) and laser-induced choroidal neovascularization (CNV) models is significantly reduced in mutant retinas

pigmentation

abnormal retina pigment epithelium morphology ( J:150865 )

• at 12 months, mutant retinas show extended malformed, vesiculated retinal pigment epithelial cell apical processes and disrupted contact with the photoreceptor outer segment

• at 20 months, mutant retinas show unusual infoldings of the basal membrane of the retinal pigment epithelium

normal phenotype

no abnormal phenotype detected ( J:74655 )

• mutant mice are viable and fertile, with normal pathology, histology and behavior noted up to two years of age

vision/eye

abnormal induced retina neovascularization ( J:148993 )

• pathological neovascularization in both oxygen-induced retinopathy (OIR) and laser-induced choroidal neovascularization (CNV) models is significantly reduced in mutant retinas

abnormal retina layer morphology ( J:150865 )

• histological analysis of 12 month old mutant mice showed an abnormal gap between the photoreceptor outer segment and the retinal pigment epithelium

• mutant retinas show extended malformed, vesiculated retinal pigment epithelial cell apical processes and disrupted contact with the photoreceptor outer segment

• at 20 months, mutants show a disorganized photoreceptor outer segment and a thinning outer nuclear layer, macrophages within the gap between the photoreceptor outer segment and the retinal pigment epithelium, and material could also be seen deposited between the RPE and Bruchs membrane

abnormal retina pigment epithelium morphology ( J:150865 )

• at 12 months, mutant retinas show extended malformed, vesiculated retinal pigment epithelial cell apical processes and disrupted contact with the photoreceptor outer segment

• at 20 months, mutant retinas show unusual infoldings of the basal membrane of the retinal pigment epithelium

abnormal retina neuronal layer morphology ( J:150865 )

increased susceptibility to age-related retinal degeneration ( J:150865 )

• progressive with age

decreased a-wave amplitude ( J:150865 )

• at 12 months of age, mutants show a saturated response of approximately 50% the amplitude of wild-type mice

• at 20 months of age, mutants show a saturated a-wave responses approximately 30% the amplitude of the age-matched wild-type

decreased b-wave amplitude ( J:150865 )

• at 12 months of age, mutants show a saturated b-wave response approximately 30% the amplitude of the age-matched wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cone-rod dystrophy 9		DOID:0111020	OMIM:612775	J:150865