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Allele : Acta1<tm1Hrd> actin alpha 1, skeletal muscle; targeted mutation 1, Edna C Hardeman

Primary Identifier  MGI:5424775 Allele Type  Targeted
Attribute String  Dominant negative, Humanized sequence Gene  Acta1
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  A C to T base pair substitution in exon 2 was introduced into the mouse alpha-skeletal actin (Acta1) genomic DNA sequence (construct spanning ~1.8 kbp upstream of exon 1 through the 3' UTR about 2.3 kbp downstream of exon 7) by site-directed mutagenesis. The CAC to TAC mutation of codon 40 results in a single amino acid substitution of histidine to tyrosine in the encoded protein. A loxP-flanked PGKneo cassette was also placed downstream of the 3' UTR. Both the human and mouse alpha-skeletal actin genes encode two N-terminal amino acids (Met and Cys) which are removed from the protein coincident with translation. Therefore, conventional numbering of the alpha-skeletal actin amino acid sequence begins with the third encoded amino acid (Asp). Hence, the H40Y mutation refers to the 40th amino acid in the protein (although this is amino acid 42 in the gene sequence).
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • Acta1(H40Y),
  • Acta1(H40Y),
  • Acta1<tm1(H40Y;neo)Hrd>,
  • Acta1<tm1(H40Y;neo)Hrd>
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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

13 Publication categories

Trail: Allele