All Phenotypes Vldlr<tm1Her> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vldlr^tm1Her/Vldlr^tm1Her	B6;129S7-Vldlr^tm1Her/J	MGI:3797222
hm2	Vldlr^tm1Her/Vldlr^tm1Her	involves: 129S7/SvEvBrd	MGI:3707546
hm3	Vldlr^tm1Her/Vldlr^tm1Her	involves: 129S7/SvEvBrd * C57BL/6	MGI:3797221
hm4	Vldlr^tm1Her/Vldlr^tm1Her	involves: 129S7/SvEvBrd * C57BL/6J	MGI:2182099
ht5	Vldlr^m1Btlr/Vldlr^tm1Her	involves: 129S7/SvEvBrd * C57BL/6J	MGI:5290106
cn6	Ldlr^tm1Her/Ldlr^tm1Her Lrp1^tm2Her/Lrp1^tm2Her Vldlr^tm1Her/Vldlr^tm1Her Tg(Mx1-cre)29-4Her/0	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:3797223
cx7	Lrp8^tm1Her/Lrp8^tm1Her Vldlr^tm1Her/Vldlr^tm1Her	involves: 129S6/SvEvTac * 129S7/SvEvBrd	MGI:3707547
cx8	Pafah1b1^tm1Awb/Pafah1b1⁺ Vldlr^tm1Her/Vldlr^tm1Her	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6	MGI:3778083
cx9	Lrp8^tm1Her/Lrp8^tm1Her Vldlr^tm1Her/Vldlr^tm1Her	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6	MGI:3778089
cx10	Lrp8^tm1Her/Lrp8^tm1Her Vldlr^tm1Her/Vldlr⁺	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J	MGI:3722255
cx11	Lrp8^tm1Her/Lrp8^tm1Her Vldlr^tm1Her/Vldlr^tm1Her	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J	MGI:3722252
cx12	Lrp8^tm4Her/Lrp8^tm4Her Vldlr^tm1Her/Vldlr^tm1Her	involves: 129S7/SvEvBrd	MGI:3621444

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

vision/eye

choroidal neovascularization ( J:132497 )

• 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

abnormal retina morphology ( J:128315 , J:132497 )

• 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)

retina neovascularization ( J:128315 , 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)

abnormal retina pigment epithelium morphology ( J:128315 , 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)

abnormal retina neuronal layer morphology ( J:128315 )

• between 6 and 8 weeks, both outer and inner segments are disrupted in lesion area; migration of RPE cells into lesion area is observed

decreased retina photoreceptor cell number ( J:128315 , J:132497 )

• 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)

retina photoreceptor degeneration ( J:132497 )

• observed at 10 months

disorganized retina inner nuclear layer ( J:128315 )

• by 4 weeks

thin retina outer nuclear layer ( J:128315 , J:132497 )

• reduced in thickness by 6 months (J:128315)

• reduced overall at 12 months; layer is completely diminished by 24 months (J:132497)

retina outer nuclear layer degeneration ( J:132497 )

• destruction of ONL is seen starting at 6 months

nervous system

decreased retina photoreceptor cell number ( J:128315 , J:132497 )

• 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)

retina photoreceptor degeneration ( J:132497 )

• observed at 10 months

cardiovascular system

choroidal neovascularization ( J:132497 )

• 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

retina neovascularization ( J:128315 , 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)

• 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

abnormal retina pigment epithelium morphology ( J:128315 , 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)

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

Allelic Composition	Vldlr^tm1Her/Vldlr^tm1Her
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vldlr^tm1Her mutation (1 available); any Vldlr mutation (69 available)

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

nervous system

abnormal brain morphology ( J:55691 )

abnormal brain development ( J:55691 )

• cortical layering disrupted, layers not clearly separated and neurons were arranged in a radial fashion

abnormal cerebellum morphology ( J:55691 )

reduced cerebellar foliation ( J:55691 )

• less foliated than wild-type

small cerebellum ( J:55691 )

impaired synaptic plasticity ( J:79593 )

abnormal long-term potentiation ( J:79593 )

• while synaptic transmission and short term plasticity appeared normal in the CA1 region, LTP induction was impaired

reduced long-term potentiation ( J:79593 )

behavior/neurological

abnormal contextual conditioning behavior ( J:79593 )

• contextual fear-conditioned learning deficits

abnormal cued conditioning behavior ( J:79593 )

• cued conditioning was reduced when tested 24 hours following training, however it was normal when tested 1 hour following training

hyperactivity ( J:79593 )

Allelic Composition	Vldlr^tm1Her/Vldlr^tm1Her
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vldlr^tm1Her mutation (1 available); any Vldlr mutation (69 available)

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

vision/eye

choroidal neovascularization ( J:114757 )

abnormal ocular fundus morphology ( J:114757 )

• 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

pathological neovascularization ( J:114757 )

• 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

• choroidal anastomoses occur commonly by 3 months, but are seen as early as 15 days in some animals

choroidal neovascularization ( J:114757 )

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:117317 )

N	• mice show normal FVIII (Factor 8) and VWF (von Willebrand factor) levels in plasma

increased circulating cholesterol level ( J:117317 )

• levels are significantly increased (>3-fold) compared to controls

increased circulating triglyceride level ( J:117317 )

• levels are significantly increased (4-fold) compared to controls

Allelic Composition	Vldlr^tm1Her/Vldlr^tm1Her
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vldlr^tm1Her mutation (1 available); any Vldlr mutation (69 available)

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

adipose tissue

decreased epididymal fat pad weight ( J:28591 )

• decreased adipose tissue, determined by weights of epididymal fat pads

growth/size/body

decreased body size ( J:28591 )

decreased body weight ( J:28591 )

• weight reduced by 15 to 20% versus littermates

• decreased body mass index (BMI)

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:28591 )

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

Allelic Composition	Vldlr^m1Btlr/Vldlr^tm1Her
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vldlr^m1Btlr mutation (0 available); any Vldlr mutation (69 available)
Vldlr^tm1Her mutation (1 available); any Vldlr mutation (69 available)

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

vision/eye

abnormal retina vasculature morphology ( J:176337 )

• 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

abnormal retina vasculature morphology ( J:176337 )

• 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

Allelic Composition	Ldlr^tm1Her/Ldlr^tm1Her Lrp1^tm2Her/Lrp1^tm2Her Vldlr^tm1Her/Vldlr^tm1Her 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:
Ldlr^tm1Her mutation (19 available); any Ldlr mutation (76 available)
Lrp1^tm2Her mutation (1 available); any Lrp1 mutation (211 available)
Tg(Mx1-cre)29-4Her mutation (0 available)
Vldlr^tm1Her mutation (1 available); any Vldlr mutation (69 available)

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

homeostasis/metabolism

increased circulating factor VIII level ( J:117317 )

• mice show significantly elevated FVIII (Factor 8), similar to Ldlr/Lrp double mutants

Allelic Composition	Lrp8^tm1Her/Lrp8^tm1Her Vldlr^tm1Her/Vldlr^tm1Her
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp8^tm1Her mutation (1 available); any Lrp8 mutation (41 available)
Vldlr^tm1Her mutation (1 available); any Vldlr mutation (69 available)

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

mortality/aging

lethality at weaning, complete penetrance ( J:55691 )

• failure to thrive evident by 10 days of age

• mice died around 20 days of age

behavior/neurological

tremors ( J:55691 )

• observed around 13 to 15 days of age

ataxia ( J:55691 )

• progressive ataxia noticeable around 13 to 15 days of age

abnormal gait ( J:55691 )

• wide gait

• often flipped onto backs when attempting to walk

paralysis ( J:55691 )

• progressive limb paralysis developed between 16 and 20 days of age

growth/size/body

decreased body size ( J:55691 )

• clearly evident by 20 days of age

nervous system

abnormal brain development ( J:55691 )

• prominent, abnormal aggregates of Purkinje cells and cortical neurons evident

• cortical layering disrupted, with layers no longer distinguishable

abnormal hippocampus development ( J:55691 )

• hippocampal neurons scattered with little distinguishable pattern

abnormal cortical marginal zone morphology ( J:105699 )

• at P21, the normally cell-free layer 1 or marginal zone is infiltrated

abnormal cerebellum development ( J:55691 )

• cerebellum present only in rudimentary form

decreased brain size ( J:55691 )

• brains smaller than normal, especially apparent for the cerebellum

abnormal hippocampus morphology ( J:105699 )

• at P21, mice display a striking disorganization of the entire hippocampal region with a more prominent splitting of CA1, CA3 and dentate gyrus regions

abnormal dentate gyrus morphology ( J:105699 )

• at P21, granule cells do not form a tightly packed layer, and calbindin-labelled cells are scattered throughout the granule-cell population

delaminated cerebral cortex ( J:105699 )

• mice display a complete disruption of cortical layering at P21

abnormal cerebellar Purkinje cell layer ( J:105699 )

• ectopic Purkinje cells are located below an outer layer of granule cells

small cerebellum ( J:55691 )

• cerebellum is severely reduced in size

Allelic Composition	Pafah1b1^tm1Awb/Pafah1b1⁺ Vldlr^tm1Her/Vldlr^tm1Her
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pafah1b1^tm1Awb mutation (0 available); any Pafah1b1 mutation (159 available)
Vldlr^tm1Her mutation (1 available); any Vldlr mutation (69 available)

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

nervous system

nervous system phenotype ( J:129338 )

N	• cerebral cortex appears fairly normal

Allelic Composition	Lrp8^tm1Her/Lrp8^tm1Her Vldlr^tm1Her/Vldlr^tm1Her
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

Find Mice

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

nervous system

abnormal cerebral cortex morphology ( J:129338 )

• inversion of upper and lower cortical layers

Allelic Composition	Lrp8^tm1Her/Lrp8^tm1Her Vldlr^tm1Her/Vldlr⁺
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J

Find Mice

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

nervous system

abnormal rostral migratory stream morphology ( J:121846 )

• rostral migratory streaming (RMS) is partially rescued but only a faint trace of RMS is visible

abnormal lateral ventricle morphology ( J:121846 )

• neuroblasts invade the lateral ventricle

Allelic Composition	Lrp8^tm1Her/Lrp8^tm1Her Vldlr^tm1Her/Vldlr^tm1Her
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J

Find Mice

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

nervous system

abnormal neuronal precursor cell migration ( J:121846 )

• in vitro migration of neuroblasts and chain formation is disrupted

abnormal cerebellum external granule cell layer morphology ( J:121846 )

• fewer cells that contribute to the olfactory bulb are found in the granule cell layer

abnormal olfactory bulb morphology ( J:121846 )

• 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

abnormal rostral migratory stream morphology ( J:121846 )

• at P17 and P61, rostral migratory streams of (RMS) neuroblasts are severely disrupted and neuroblasts accumulate in the subventricular zone

abnormal postnatal subventricular zone morphology ( J:121846 )

• neuroblasts and glial cells accumulate in the subventricular zone

• a 15-fold increase in apoptosis in the subventricular zone is observed

cellular

abnormal neuronal precursor cell migration ( J:121846 )

• in vitro migration of neuroblasts and chain formation is disrupted

Allelic Composition	Lrp8^tm4Her/Lrp8^tm4Her Vldlr^tm1Her/Vldlr^tm1Her
Genetic Background	involves: 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrp8^tm4Her mutation (0 available); any Lrp8 mutation (41 available)
Vldlr^tm1Her mutation (1 available); any Vldlr mutation (69 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:105699 )

• animals usually die between 2 and 3 weeks of age due to severe motor abnormalities

growth/size/body

decreased body size ( J:105699 )

nervous system

abnormal cortical marginal zone morphology ( J:105699 )

• at P21, the normally cell-free layer 1 or marginal zone shows infiltration

abnormal hippocampus morphology ( J:105699 )

• at P21, mice display a striking disorganization of the entire hippocampal region with a more prominent splitting of CA1, CA3 and dentate gyrus regions

abnormal dentate gyrus morphology ( J:105699 )

• at P21, granule cells do not form a tightly packed layer, and calbindin-labelled cells are scattered throughout the granule-cell population

delaminated cerebral cortex ( J:105699 )

• mice display a complete disruption of cortical layering at P21

abnormal cerebellar Purkinje cell layer ( J:105699 )

• ectopic Purkinje cells are located below an outer layer of granule cells

small cerebellum ( J:105699 )

• cerebellum is severely reduced in size

behavior/neurological

tremors ( J:105699 )

• mice exhibit tremors by 2 weeks of age

ataxia ( J:105699 )

• ataxia develops by 2 weeks of age

impaired balance ( J:105699 )

• mice display impaired balance by 2 weeks of age

abnormal gait ( J:105699 )

• mice have an abnormal gait by 2 weeks of age

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