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Allele : Als2<tm1Deng> alsin Rho guanine nucleotide exchange factor; targeted mutation 1, Han-Xiang Deng

Primary Identifier  MGI:3770658 Allele Type  Targeted
Attribute String  Null/knockout Gene  Als2
Transmission  Germline Strain of Origin  129/Sv
Is Recombinase  false Is Wild Type  false
molecularNote  A neomycin resistance cassette replaced part of exon 3 and all of exon 4, eliminating expression of the endogenous short and long isoforms. RT-PCR and sequence analysis of brain tissue from homozygotes revealed a mutant mRNA was produced with exons 3 and 4 skipped, leading to a frame shift and premature stop codon in exon 5. This mutant transcript was predicted to produce a polypeptide that is only 9 amino acids long with no functional activity. No native protein was produced in homozygotes by Western blot analysis.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • Alsin<->,
  • Alsin<->
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories