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Phenotypes Associated with This Genotype
Genotype
MGI:3606583
Allelic
Composition
Lrp5tm1Dgen/Lrp5tm1Dgen
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp5tm1Dgen mutation (1 available); any Lrp5 mutation (81 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• delayed superficial blood vessel growth in retina
• reduced vascular density in retina
• extensive blood leakage in retina

vision/eye
• delayed superficial blood vessel growth
• reduced vascular density
• extensive blood leakage
• changes related to degeneration are more prominent in the outer layers of the retina (photoreceptor layers) and least pronounced in the inner layers
• loss of ganglion cell nuclei, especially large ganglion cells, is seen in some degenerating retinas
• degeneration of the photoreceptors is seen in some degenerating retinas
• thinning and vacuolation of the pigment epithelium layer are seen in some degenerating retinas
• disorganization of the inner nuclear layer is seen in some degenerating retinas
• thinning of the inner plexiform layer is seen in some degenerating retinas
• gliosis of the retinal nerve fiber layer is seen in some degenerating retinas
• thinning, disorganization, and pyknosis of the outer nuclear layer are seen in some degenerating retinas
• thinning and disorganization of the outer plexiform layer, sometimes with juxtaposition of the photoreceptor nuclei and the bipolar cell or inner nuclear layer, are seen in some degenerating retinas
• at 7 weeks of age mild to severe retinal degeneration is seen and at 10 months of age all homozygotes display moderate to severe retinal degeneration
• severity of degeneration usually differs between the two eyes of affected homozygotes
• retinal folds are seen in some degenerating retinas

behavior/neurological
• homozygotes spend significantly less time in the central region in an open field test
• homozygotes travel less total distance in an open field test

nervous system
• gliosis of the retinal nerve fiber layer is seen in some degenerating retinas
• loss of ganglion cell nuclei, especially large ganglion cells, is seen in some degenerating retinas
• degeneration of the photoreceptors is seen in some degenerating retinas

pigmentation
• thinning and vacuolation of the pigment epithelium layer are seen in some degenerating retinas

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
exudative vitreoretinopathy DOID:0050535 OMIM:PS133780
J:328283


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory