Phenotypes Associated with This Genotype

Genotype
MGI:4946082

• Allelic Composition: Lrp5^tm1Dgen/Lrp5^tm1Dgen
• Genetic Background: B6.129P2-Lrp5^tm1Dgen/J

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

vision/eye

persistence of hyaloid vascular system ( J:169924 , J:235600 )

• mutants do not exhibit the postnatal decrease in hyaloid vessels observed in controls at P10 (J:169924)

• mice have about double the number of hyaloid vessels branching from the hyaloid artery indicating persistent hyaloid vessels (J:235600)

• treatment with lithium from P1 to P7 reduces the number of hyaloid vessels in P8 eyes by about 30% (J:235600)

abnormal retina morphology ( J:235600 )

• decrease in outer retina thickness

• mice show secondary inner-retinal hypoxia

abnormal retina vasculature morphology ( J:235600 )

• mice show less retinal vascular coverage and fewer branching points in the central superficial vascular plexus at P7, indicating delayed development of retinal vasculature

• daily treatment with lithium from P1 to P7 accelerates retinal vascular growth, results in a 7.6% increase in superficial plexus vascular coverage and 42% increase in the number of branching points at P7

• mice show defective vascular migration into the inner retina at P17

• mice develop vascular growth in the superficial plexus with glomeruloid vascular structures at P17

• lithium treatment from P1 to P16 reduces the retinal area of glomeruloid vessels by about 60%

• lithium treatment from P1 to P16 normalizes the appearance of finely pruned vessels and the abnormally increased vascular density in the superficial vascular layer

abnormal retina blood vessel morphology ( J:235600 )

• mice show a complete absence of intralaminar (intermediate and deep layers of) retinal vessels at P17

decreased total retina thickness ( J:235600 )

• eyes show decreased thickness of the whole retina

• lithium treatment partially restores both the whole retinal and inner retinal thickness

abnormal b-wave shape ( J:235600 )

• b-wave responses are attenuated in P30 mice

• treatment with lithium restores b-wave sensitivity

abnormal vision ( J:235600 )

• decrease in visual function

cardiovascular system

abnormal retina vasculature morphology ( J:235600 )

• mice show less retinal vascular coverage and fewer branching points in the central superficial vascular plexus at P7, indicating delayed development of retinal vasculature

• daily treatment with lithium from P1 to P7 accelerates retinal vascular growth, results in a 7.6% increase in superficial plexus vascular coverage and 42% increase in the number of branching points at P7

• mice show defective vascular migration into the inner retina at P17

• mice develop vascular growth in the superficial plexus with glomeruloid vascular structures at P17

• lithium treatment from P1 to P16 reduces the retinal area of glomeruloid vessels by about 60%

• lithium treatment from P1 to P16 normalizes the appearance of finely pruned vessels and the abnormally increased vascular density in the superficial vascular layer

abnormal retina blood vessel morphology ( J:235600 )

• mice show a complete absence of intralaminar (intermediate and deep layers of) retinal vessels at P17

abnormal vascular plexus formation ( J:235600 )

• mice show fewer branching points in the central superficial vascular plexus of the retina at P7

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
exudative vitreoretinopathy		DOID:0050535	OMIM:PS133780	J:235600