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| Nomenclature |
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Symbol:
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Lmbr1tm1Kng
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Name:
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limb region 1;
targeted mutation 1, David M Kingsley
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MGI ID: |
MGI:3579991 |
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Synonyms: |
Lmbr1ATG |
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Gene:
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Lmbr1
Location:
Chr5:29229814-29378390 bp, - strand
Genetic Position: Chr5,
14.81 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:72166
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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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 1.1 kb sequence containing 365 bp upstream of the predicted translational start site of exon 1 and 696 bp downstream of the exon 1 splice donor site was replaced with a PGKneo selection cassette. The deleted sequence was common to both known transcripts. Northern blot of mutant brains suggested that the allele may not have been a null as overexposure to probes demonstrated transcripts at ~7% of wild-type levels. (J:72166)
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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 Lmbr1 Mutation:
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7 strains or lines available |
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| References |
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Original: |
J:72166
Clark RM et al.,
"Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting lmbr1."
Genetics 2001 Oct;159(2):715-26
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All: |
1 reference(s)
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