Phenotypes associated with this allele

• Allele Symbol: Lrp5^tm1Dgen
• Allele Name: targeted mutation 1, Deltagen
• Allele ID: MGI:3604604
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lrp5^tm1Dgen/Lrp5^tm1Dgen	B6.129P2-Lrp5^tm1Dgen/J	MGI:4946082
hm2	Lrp5^tm1Dgen/Lrp5^tm1Dgen	involves: 129P2/OlaHsd * C57BL/6	MGI:3606583

Genotype
MGI:4946082

hm1

• 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

Genotype
MGI:3606583

hm2

• Allelic Composition: Lrp5^tm1Dgen/Lrp5^tm1Dgen
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

cardiovascular system

decreased angiogenesis ( J:328283 )

• delayed superficial blood vessel growth in retina

• reduced vascular density in retina

hemorrhage ( J:328283 )

• extensive blood leakage in retina

vision/eye

abnormal retina development ( J:328283 )

• delayed superficial blood vessel growth

• reduced vascular density

• extensive blood leakage

abnormal retina layer morphology ( J:101679 )

• changes related to degeneration are more prominent in the outer layers of the retina (photoreceptor layers) and least pronounced in the inner layers

retina ganglion cell degeneration ( J:101679 )

• loss of ganglion cell nuclei, especially large ganglion cells, is seen in some degenerating retinas

retina photoreceptor degeneration ( J:101679 )

• degeneration of the photoreceptors is seen in some degenerating retinas

abnormal retina pigment epithelium morphology ( J:101679 )

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

disorganized retina inner nuclear layer ( J:101679 )

• disorganization of the inner nuclear layer is seen in some degenerating retinas

thin retina inner plexiform layer ( J:101679 )

• thinning of the inner plexiform layer is seen in some degenerating retinas

abnormal retina nerve fiber layer morphology ( J:101679 )

• gliosis of the retinal nerve fiber layer is seen in some degenerating retinas

abnormal retina outer nuclear layer morphology ( J:101679 )

• thinning, disorganization, and pyknosis of the outer nuclear layer are seen in some degenerating retinas

thin retina outer nuclear layer ( J:101679 )

disorganized retina outer nuclear layer ( J:101679 )

abnormal retina outer plexiform layer morphology ( J:101679 )

• 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

disorganized retina outer plexiform layer ( J:101679 )

thin retina outer plexiform layer ( J:101679 )

increased susceptibility to age-related retinal degeneration ( J:101679 )

• 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

retina fold ( J:101679 )

• retinal folds are seen in some degenerating retinas

behavior/neurological

increased thigmotaxis ( J:101679 )

• homozygotes spend significantly less time in the central region in an open field test

decreased locomotor activity ( J:101679 )

• homozygotes travel less total distance in an open field test

nervous system

gliosis ( J:101679 )

• gliosis of the retinal nerve fiber layer is seen in some degenerating retinas

retina ganglion cell degeneration ( J:101679 )

• loss of ganglion cell nuclei, especially large ganglion cells, is seen in some degenerating retinas

retina photoreceptor degeneration ( J:101679 )

• degeneration of the photoreceptors is seen in some degenerating retinas

pigmentation

abnormal retina pigment epithelium morphology ( J:101679 )

• 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