Lrp2^tm1Her
Targeted Allele Detail

Summary

• Symbol: Lrp2^tm1Her
• Name: low density lipoprotein receptor-related protein 2; targeted mutation 1, Joachim Herz
• MGI ID: MGI:1931859
• Synonyms: megalin-, Meg KO
• Gene: Lrp2 Location: Chr2:69254679-69416373 bp, - strand Genetic Position: Chr2, 40.74 cM
• Alliance: Lrp2^tm1Her page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:34835
• Parent Cell Line: JH1 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced 1.5kb of sequence including sequences that encode the transmembrane region of the protein. Immunoblot analysis of kidney membranes did not detect the protein in homozygous mutant newborn mice. Immunohistochemical studies of 9.5 day homozygous mutant embryos did not detect the protein on the apical surface of the neuroepithelium. (J:34835)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Lrp2^tm1Her/Lrp2^tm1Her	either: (involves: 129S7/SvEvBrd * CD-1) or (involves: 129/SvEmcTer * 129S7/SvEvBrd * C57BL/6N)
hm2  Disease Model	Lrp2^tm1Her/Lrp2^tm1Her	involves: 129S7/SvEvBrd
hm3	Lrp2^tm1Her/Lrp2^tm1Her	involves: 129S7/SvEvBrd * C57BL/6
hm4	Lrp2^tm1Her/Lrp2^tm1Her	involves: 129S7/SvEvBrd * C57BL/6 * FVB/NJ
ht5	Lrp2^tm1Her/Lrp2^+	involves: 129S7/SvEvBrd * C57BL/6

Phenotypes:

Affected Systems	hm1		hm2	hm3	hm4		ht5
show or hide all annotated terms Sex:
behavior/neurological					N	N
behavior/neurological phenotype					N	N
cellular			√
increased apoptosis			√
craniofacial			√
abnormal viscerocranium morphology			√
flat forehead			√
short snout			√
embryo			√
decreased embryo size			√
abnormal embryonic neuroepithelium morphology			√
delayed neural tube closure			√
endocrine/exocrine glands		√
abnormal testis morphology		√
abnormal testis development		√
unilateral cryptorchism		√
growth/size/body			√		N	N
growth/size/body region phenotype					N	N
flat forehead			√
short snout			√
decreased embryo size			√
hearing/vestibular/ear				√			√
abnormal strial marginal cell morphology				√
abnormal ear physiology							√
abnormal hearing physiology				√
increased or absent threshold for auditory brainstem response				√			√
increased susceptibility to age-related hearing loss				√
impaired hearing				√			√
homeostasis/metabolism	√	√	√		√	√
increased circulating dihydrotestosterone level	√	√
increased circulating testosterone level	√	√
cyanosis			√
abnormal selenium level					√	√
abnormal urine homeostasis			√
increased urine protein level			√
increased urine microglobulin level			√
increased urine selenium level					√	√
decreased glutathione peroxidase activity					√	√
abnormal response/metabolism to endogenous compounds	√	√
mortality/aging			√	√
perinatal lethality, complete penetrance			√
perinatal lethality, incomplete penetrance				√
nervous system			√
abnormal embryonic neuroepithelium morphology			√
delayed neural tube closure			√
abnormal forebrain development			√
small embryonic telencephalon			√
holoprosencephaly			√
abnormal choroid plexus morphology			√
abnormal telencephalon morphology			√
absent corpus callosum			√
absent olfactory bulb			√
exencephaly			√
renal/urinary system			√		√	√
abnormal urine homeostasis			√
increased urine protein level			√
increased urine microglobulin level			√
increased urine selenium level					√	√
abnormal proximal convoluted tubule morphology			√
reproductive system	√	√
abnormal testis morphology		√
abnormal testis development		√
unilateral cryptorchism		√
dilated uterus	√
vaginal septum	√
respiratory system			√
atelectasis			√
overexpanded pulmonary alveolus			√
abnormal respiratory system physiology			√
emphysema			√
respiratory failure			√
skeleton			√
abnormal viscerocranium morphology			√
vision/eye			√
microphthalmia			√
anophthalmia			√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm2
Fanconi syndrome IDs Fanconi syndrome       DOID:1062 DOID:5956 MESH:D005198 NCI:C3034 NCI:C4377 OMIM:PS134600 ORDO:3337 UMLS_CUI:C0015624 UMLS_CUI:C0341703 Close	√

Expression

In Mice Carrying this Mutation:	28 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	23 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Lrp2 Mutation: 261 strains or lines available

References

• Original: J:34835 Willnow TE, et al., Defective forebrain development in mice lacking gp330/megalin. Proc Natl Acad Sci U S A. 1996 Aug 6;93(16):8460-4
• All: 32 reference(s)