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L1camtm1Mtei
Targeted Allele Detail
Summary
Symbol: L1camtm1Mtei
Name: L1 cell adhesion molecule; targeted mutation 1, Ned Mantei
MGI ID: MGI:2181735
Synonyms: L1-
Gene: L1cam  Location: ChrX:72897384-72924843 bp, - strand  Genetic Position: ChrX, 37.43 cM, cytoband A6-B
Alliance: L1camtm1Mtei page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:43838
Parent Cell Line:  GS1 (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsExon 8 was disrupted by the insertion of a construct containing adjacent thymidine kinase and neomycin resistance genes. Low levels of a truncated transcript were detected via Northern blot analysis of total RNA isolated from homozygous mutant brain tissue (data not shown). Western blot analysis of protein extracts from homozygous mutant brain tissue showed an absence of the four isoforms detected in extracts from normal brain tissue, though low levels of a 190kD aberrant transcript were detected. (J:43838)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 47 assay results
In Structures Affected by this Mutation: 9 anatomical structure(s)
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 L1cam Mutation:  12 strains or lines available
References
Original:  J:43838 Dahme M, et al., Disruption of the mouse L1 gene leads to malformations of the nervous system. Nat Genet. 1997 Nov;17(3):346-9
All:  24 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
03/19/2024
MGI 6.23
The Jackson Laboratory