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| Nomenclature |
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Symbol:
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Sptbn1tm1Mish
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Name:
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spectrin beta, non-erythrocytic 1;
targeted mutation 1, Lopa Mishra
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MGI ID: |
MGI:2450327 |
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Synonyms: |
Beta2SP-, Elf- |
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Gene:
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Sptbn1
Location:
Chr11:30099395-30268175 bp, - strand
Genetic Position: Chr11,
17.44 cM
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Beckwith-Wiedemann Syndrome-like phenotypes in Sptbn1tm1Mish/Spnb2+ mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:81747
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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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 2.2 kb fragment containing the 25th exon was replaced with a neomycin selection cassette. The deleted region encodes 114 amino acids that make up the a portion of the ankyrin binding domain. Western blot analysis of homozygous mutant embryos indicated an absence of normal protein. (J:81747)
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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 Sptbn1 Mutation:
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38 strains or lines available |
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| References |
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Original: |
J:81747
Tang Y et al.,
"Disruption of transforming growth factor-beta signaling in ELF beta-spectrin-deficient mice."
Science 2003 Jan 24;299(5606):574-7
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All: |
9 reference(s)
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Analysis Tools
