Sptbn1^tm1Mish
Targeted Allele Detail

Nomenclature

• Symbol: Sptbn1^tm1Mish
• Name: spectrin beta, non-erythrocytic 1; targeted mutation 1, Lopa Mishra
• MGI ID: MGI:2450327
• Synonyms: Beta2SP^-, Elf^-
• Gene: Sptbn1 Location: Chr11:30099395-30268175 bp, - strand Genetic Position: Chr11, 17.44 cM

Beckwith-Wiedemann Syndrome-like phenotypes in Sptbn1^tm1Mish/Spnb2⁺ mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:81747
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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)

Disease models

Expression

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: 33 strains or lines available

References

• 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: 11 reference(s)