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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Vldlrtm1Her
targeted mutation 1, Joachim Herz
MGI:1857267
Summary 12 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Vldlrtm1Her/Vldlrtm1Her B6;129S7-Vldlrtm1Her/J MGI:3797222
hm2
Vldlrtm1Her/Vldlrtm1Her involves: 129S7/SvEvBrd MGI:3707546
hm3
Vldlrtm1Her/Vldlrtm1Her involves: 129S7/SvEvBrd * C57BL/6 MGI:3797221
hm4
Vldlrtm1Her/Vldlrtm1Her involves: 129S7/SvEvBrd * C57BL/6J MGI:2182099
ht5
Vldlrm1Btlr/Vldlrtm1Her involves: 129S7/SvEvBrd * C57BL/6J MGI:5290106
cn6
Ldlrtm1Her/Ldlrtm1Her
Lrp1tm2Her/Lrp1tm2Her
Vldlrtm1Her/Vldlrtm1Her
Tg(Mx1-cre)29-4Her/0
involves: 129S7/SvEvBrd * C57BL/6 * SJL MGI:3797223
cx7
Lrp8tm1Her/Lrp8tm1Her
Vldlrtm1Her/Vldlrtm1Her
involves: 129S6/SvEvTac * 129S7/SvEvBrd MGI:3707547
cx8
Pafah1b1tm1Awb/Pafah1b1+
Vldlrtm1Her/Vldlrtm1Her
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 MGI:3778083
cx9
Lrp8tm1Her/Lrp8tm1Her
Vldlrtm1Her/Vldlrtm1Her
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 MGI:3778089
cx10
Lrp8tm1Her/Lrp8tm1Her
Vldlrtm1Her/Vldlrtm1Her
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J MGI:3722252
cx11
Lrp8tm1Her/Lrp8tm1Her
Vldlrtm1Her/Vldlr+
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J MGI:3722255
cx12
Lrp8tm4Her/Lrp8tm4Her
Vldlrtm1Her/Vldlrtm1Her
involves: 129S7/SvEvBrd MGI:3621444


Genotype
MGI:3797222
hm1
Allelic
Composition
Vldlrtm1Her/Vldlrtm1Her
Genetic
Background
B6;129S7-Vldlrtm1Her/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vldlrtm1Her mutation (1 available); any Vldlr mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• CNV membranes develop after 6 months of age with some tissue destruction in INL and ONL
• some retinal-choroidal anastomoses may be observed at 10 months
• accumulation of cell debris is observed prior to development of intraretinal neovascularization (J:128315)
• angiomatous growths are densely distributed throughout retina at 4 weeks (J:132497)
• at 6 weeks, scattered pink spots progress to large, irregular pink areas by 6 months; leaking spots decrease after 8 months with large rigid vascular tangles still present and leakage is barely detectable by 12 months (J:132497)
• fibrosis formation is present at 12 months, beginning around 3 months with fibroblast accumulation at lesion site (J:132497)
• new vessels form in outer plexiform layer of retina around 3 weeks of age; vessels migrate into subretinal space by 4 weeks (J:128315)
• angiography shows leakage in retinas at 6 weeks, mainly in central area of retina near optic nerve, with red blood cells found around the leakage spot; neovascularization is localized to outer nuclear layer and in subretinal space (J:128315)
• signs of new vessel growth is observed at 14 days in deep capillary bed of outer plexiform layer (OPL) of retina, protruding into avascular zone of outer nuclear layer (ONL) (J:132497)
• new vessel buds reach subretinal space by P15 (J:132497)
• leakage is first seen at 3 weeks and increases with age, with leaking areas covering most of retinal by 6 weeks (J:132497)
• clumps of retinal pigmented epithelial cells (RPE) adhere to neovascular tufts in subretinal space; these increase with age (J:132497)
• subretinal neovascularization (SRN) is seen at 6 weeks of age (J:132497)
• fibrosis formation is present at 12 months, beginning around 3 months with fibroblast accumulation at lesion site (J:132497)
• thickening of RPE cells is observed prior to development of intraretinal neovascularization (J:128315)
• disruption of RPE layer is observed by 6 weeks of age (J:132497)
• pigment adhesions to neural tissue are seen by 6 weeks, representing pigment epithelium detachment (J:132497)
• between 6 and 8 weeks, both outer and inner segments are disrupted in lesion area; migration of RPE cells into lesion area is observed
• significant loss of photoreceptors is seen at 6 months, resulting in thinning of outer nuclear layer (J:128315)
• increased loss is detected at 12 months (J:132497)
• observed at 10 months
• reduced in thickness by 6 months (J:128315)
• reduced overall at 12 months; layer is completely diminished by 24 months (J:132497)
• destruction of ONL is seen starting at 6 months

nervous system
• significant loss of photoreceptors is seen at 6 months, resulting in thinning of outer nuclear layer (J:128315)
• increased loss is detected at 12 months (J:132497)
• observed at 10 months

cardiovascular system
• CNV membranes develop after 6 months of age with some tissue destruction in INL and ONL
• some retinal-choroidal anastomoses may be observed at 10 months
• new vessels form in outer plexiform layer of retina around 3 weeks of age; vessels migrate into subretinal space by 4 weeks (J:128315)
• angiography shows leakage in retinas at 6 weeks, mainly in central area of retina near optic nerve, with red blood cells found around the leakage spot; neovascularization is localized to outer nuclear layer and in subretinal space (J:128315)
• signs of new vessel growth is observed at 14 days in deep capillary bed of outer plexiform layer (OPL) of retina, protruding into avascular zone of outer nuclear layer (ONL) (J:132497)
• new vessel buds reach subretinal space by P15 (J:132497)
• leakage is first seen at 3 weeks and increases with age, with leaking areas covering most of retinal by 6 weeks (J:132497)
• clumps of retinal pigmented epithelial cells (RPE) adhere to neovascular tufts in subretinal space; these increase with age (J:132497)
• subretinal neovascularization (SRN) is seen at 6 weeks of age (J:132497)
• fibrosis formation is present at 12 months, beginning around 3 months with fibroblast accumulation at lesion site (J:132497)

pigmentation
• thickening of RPE cells is observed prior to development of intraretinal neovascularization (J:128315)
• disruption of RPE layer is observed by 6 weeks of age (J:132497)
• pigment adhesions to neural tissue are seen by 6 weeks, representing pigment epithelium detachment (J:132497)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
age related macular degeneration 1 DOID:0110014 OMIM:603075
J:132497




Genotype
MGI:3707546
hm2
Allelic
Composition
Vldlrtm1Her/Vldlrtm1Her
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vldlrtm1Her mutation (1 available); any Vldlr mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• cortical layering disrupted, layers not clearly separated and neurons were arranged in a radial fashion
• less foliated than wild-type
• while synaptic transmission and short term plasticity appeared normal in the CA1 region, LTP induction was impaired

behavior/neurological
• contextual fear-conditioned learning deficits
• cued conditioning was reduced when tested 24 hours following training, however it was normal when tested 1 hour following training




Genotype
MGI:3797221
hm3
Allelic
Composition
Vldlrtm1Her/Vldlrtm1Her
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vldlrtm1Her mutation (1 available); any Vldlr mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at 6 weeks, some depigmented pink spots are observed in the fundus; spots develop into large, irregularly shaped pink areas by 6 months of age

cardiovascular system
• choroidal anastomoses occur commonly by 3 months, but are seen as early as 15 days in some animals
• at 3 weeks, focal areas of neovascular leakage are observed and increase in number with age
• new vessels originate in the plexiform layer, grow and migrate into the subretinal space

homeostasis/metabolism
N
• mice show normal FVIII (Factor 8) and VWF (von Willebrand factor) levels in plasma
• levels are significantly increased (>3-fold) compared to controls
• levels are significantly increased (4-fold) compared to controls




Genotype
MGI:2182099
hm4
Allelic
Composition
Vldlrtm1Her/Vldlrtm1Her
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vldlrtm1Her mutation (1 available); any Vldlr mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
adipose tissue
• decreased adipose tissue, determined by weights of epididymal fat pads

growth/size/body
• weight reduced by 15 to 20% versus littermates
• decreased body mass index (BMI)

homeostasis/metabolism
N
• normal plasma concentrations of cholesterol, triacylglycerol, lipoproteins, glucose, insulin, and free fatty acids




Genotype
MGI:5290106
ht5
Allelic
Composition
Vldlrm1Btlr/Vldlrtm1Her
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vldlrm1Btlr mutation (0 available); any Vldlr mutation (47 available)
Vldlrtm1Her mutation (1 available); any Vldlr mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• similar to in mice homozygous for either allele with abnormal vascular growth from the outer plexiform layer towards the subretinal space and retinal pigment epithelial layer

cardiovascular system
• similar to in mice homozygous for either allele with abnormal vascular growth from the outer plexiform layer towards the subretinal space and retinal pigment epithelial layer




Genotype
MGI:3797223
cn6
Allelic
Composition
Ldlrtm1Her/Ldlrtm1Her
Lrp1tm2Her/Lrp1tm2Her
Vldlrtm1Her/Vldlrtm1Her
Tg(Mx1-cre)29-4Her/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ldlrtm1Her mutation (19 available); any Ldlr mutation (62 available)
Lrp1tm2Her mutation (1 available); any Lrp1 mutation (134 available)
Tg(Mx1-cre)29-4Her mutation (0 available)
Vldlrtm1Her mutation (1 available); any Vldlr mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• mice show significantly elevated FVIII (Factor 8), similar to Ldlr/Lrp double mutants




Genotype
MGI:3707547
cx7
Allelic
Composition
Lrp8tm1Her/Lrp8tm1Her
Vldlrtm1Her/Vldlrtm1Her
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp8tm1Her mutation (1 available); any Lrp8 mutation (29 available)
Vldlrtm1Her mutation (1 available); any Vldlr mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• failure to thrive evident by 10 days of age
• mice died around 20 days of age

behavior/neurological
• observed around 13 to 15 days of age
• progressive ataxia noticeable around 13 to 15 days of age
• wide gait
• often flipped onto backs when attempting to walk
• progressive limb paralysis developed between 16 and 20 days of age

growth/size/body
• clearly evident by 20 days of age

nervous system
• prominent, abnormal aggregates of Purkinje cells and cortical neurons evident
• cortical layering disrupted, with layers no longer distinguishable
• hippocampal neurons scattered with little distinguishable pattern
• at P21, the normally cell-free layer 1 or marginal zone is infiltrated
• cerebellum present only in rudimentary form
• brains smaller than normal, especially apparent for the cerebellum
• at P21, mice display a striking disorganization of the entire hippocampal region with a more prominent splitting of CA1, CA3 and dentate gyrus regions
• at P21, granule cells do not form a tightly packed layer, and calbindin-labelled cells are scattered throughout the granule-cell population
• mice display a complete disruption of cortical layering at P21
• ectopic Purkinje cells are located below an outer layer of granule cells
• cerebellum is severely reduced in size




Genotype
MGI:3778083
cx8
Allelic
Composition
Pafah1b1tm1Awb/Pafah1b1+
Vldlrtm1Her/Vldlrtm1Her
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pafah1b1tm1Awb mutation (0 available); any Pafah1b1 mutation (159 available)
Vldlrtm1Her mutation (1 available); any Vldlr mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• cerebral cortex appears fairly normal




Genotype
MGI:3778089
cx9
Allelic
Composition
Lrp8tm1Her/Lrp8tm1Her
Vldlrtm1Her/Vldlrtm1Her
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp8tm1Her mutation (1 available); any Lrp8 mutation (29 available)
Vldlrtm1Her mutation (1 available); any Vldlr mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• inversion of upper and lower cortical layers




Genotype
MGI:3722252
cx10
Allelic
Composition
Lrp8tm1Her/Lrp8tm1Her
Vldlrtm1Her/Vldlrtm1Her
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp8tm1Her mutation (1 available); any Lrp8 mutation (29 available)
Vldlrtm1Her mutation (1 available); any Vldlr mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
in vitro migration of neuroblasts and chain formation is disrupted
• fewer cells that contribute to the olfactory bulb are found in the granule cell layer
• olfactory bulbs contain only 60% of the number of cells in the granule cell layer compared to in wild-type mice
• ependymal zone of the bulb contains fewer cells
• at P17 and P61, rostral migratory streams of (RMS) neuroblasts are severely disrupted and neuroblasts accumulate in the subventricular zone
• neuroblasts and glial cells accumulate in the subventricular zone
• a 15-fold increase in apoptosis in the subventricular zone is observed

cellular
in vitro migration of neuroblasts and chain formation is disrupted




Genotype
MGI:3722255
cx11
Allelic
Composition
Lrp8tm1Her/Lrp8tm1Her
Vldlrtm1Her/Vldlr+
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp8tm1Her mutation (1 available); any Lrp8 mutation (29 available)
Vldlrtm1Her mutation (1 available); any Vldlr mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• rostral migratory streaming (RMS) is partially rescued but only a faint trace of RMS is visible
• neuroblasts invade the lateral ventricle




Genotype
MGI:3621444
cx12
Allelic
Composition
Lrp8tm4Her/Lrp8tm4Her
Vldlrtm1Her/Vldlrtm1Her
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp8tm4Her mutation (0 available); any Lrp8 mutation (29 available)
Vldlrtm1Her mutation (1 available); any Vldlr mutation (47 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• animals usually die between 2 and 3 weeks of age due to severe motor abnormalities

growth/size/body

nervous system
• at P21, the normally cell-free layer 1 or marginal zone shows infiltration
• at P21, mice display a striking disorganization of the entire hippocampal region with a more prominent splitting of CA1, CA3 and dentate gyrus regions
• at P21, granule cells do not form a tightly packed layer, and calbindin-labelled cells are scattered throughout the granule-cell population
• mice display a complete disruption of cortical layering at P21
• ectopic Purkinje cells are located below an outer layer of granule cells
• cerebellum is severely reduced in size

behavior/neurological
• mice exhibit tremors by 2 weeks of age
• ataxia develops by 2 weeks of age
• mice display impaired balance by 2 weeks of age
• mice have an abnormal gait by 2 weeks of age





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last database update
01/18/2022
MGI 6.17
The Jackson Laboratory