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Lmnatm1.1Vde
Targeted Allele Detail
Nomenclature
Symbol: Lmnatm1.1Vde
Name: lamin A; targeted mutation 1.1, Valerie Delague
MGI ID: MGI:7260353
Synonyms: LmnaR298C
Gene: Lmna  Location: Chr3:88388455-88413842 bp, - strand  Genetic Position: Chr3, 38.84 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:322912
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/SvJ
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsA C to T transition at position 892 resulting in an arginine to cysteine substitution at amino acid 298 (p.R298C) was introduced in exon 5 and an loxP-flanked neomycin selection cassette was inserted in intron 5. The selection cassette was removed via cre-mediated recombination. The R298C is the causative homozygous mutation in patients with Charcot-Marie-Tooth disease type 2B1. (J:322912)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Lmna Mutation:  76 strains or lines available
References
Original:  J:322912 Poitelon Y, et al., Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C). Neuromolecular Med. 2012 Mar;14(1):40-52
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/03/2022
MGI 6.21
The Jackson Laboratory