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| Nomenclature |
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Symbol:
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Lamc2tm1Uit
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Name:
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laminin, gamma 2;
targeted mutation 1, Jouni Uitto
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MGI ID: |
MGI:2679597 |
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Synonyms: |
Lamc2- |
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Gene:
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Lamc2
Location:
Chr1:153122756-153186447 bp, - strand
Genetic Position: Chr1,
65.26 cM, cytoband H1
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:85981
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A floxed neomycin resistance gene was inserted in intron 8 and another loxP site was placed in intron 7. Also, frt sites were inserted on either side of exon 9. Transient cre expression in the ES cells removed exon 8 which caused a frame shift and a premature termination codon in exon 9. RT-PCR indicated mRNA of 510bp rather than 623bp. There was also a minor smaller transcript of 291bp. No protein product could be seen immunologically in skin biopsies of homozygous mice. (J:85981)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Lamc2 Mutation:
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7 strains or lines available |
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| References |
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Original: |
J:85981
Meng X et al.,
"Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa."
J Invest Dermatol 2003 Oct;121(4):720-31
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All: |
3 reference(s)
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Analysis Tools
