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Targeted Allele Detail
Symbol: Sptbn1tm1Mish
Name: spectrin beta, non-erythrocytic 1; targeted mutation 1, Lopa Mishra
MGI ID: MGI:2450327
Synonyms: Beta2SP-, Elf-
Gene: Sptbn1  Location: Chr11:30049395-30218175 bp, - strand  Genetic Position: Chr11, 17.44 cM
Beckwith-Wiedemann Syndrome-like phenotypes in Sptbn1tm1Mish/Spnb2+ mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:81747
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 13 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 Sptbn1 Mutation:  99 strains or lines available
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
All:  13 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
MGI 6.21
The Jackson Laboratory