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Allele : Sptbn2<tm1Mjac> spectrin beta, non-erythrocytic 2; targeted mutation 1, Mandy Jackson

Primary Identifier  MGI:4821979 Allele Type  Targeted
Attribute String  Hypomorph Gene  Sptbn2
Transmission  Germline Strain of Origin  129P2/OlaHsd
Is Recombinase  false Is Wild Type  false
molecularNote  The exons 3-6 were replaced with PGK-neo cassette by targeted recombination. The resulting allele, when exon 2 is spliced onto exon 7, disrupt the open reading frame, introducing a premature stop codon at the beginning of exon 7. Western blot analysis using a C-terminal specific antibody onto whole cerebellar homogenates confirmed absence of full-length protein. However, a low level of a form of gene product with a reduced function resulting from exon1 spliced onto exon 7 that lacks most of the actin-binding domain encoded by exons 2-6 was expressed. This is a hypomorphic allele.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • beta-III<->,
  • beta-III<->
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

9 Publication categories

Trail: Allele