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Targeted Allele Detail
Symbol: Acta1tm1Hrd
Name: actin, alpha 1, skeletal muscle; targeted mutation 1, Edna C Hardeman
MGI ID: MGI:5424775
Synonyms: Acta1(H40Y), Acta1tm1(H40Y;neo)Hrd
Gene: Acta1  Location: Chr8:123891767-123894736 bp, - strand  Genetic Position: Chr8, 72.26 cM
Germline Transmission:  Earliest citation of germline transmission: J:184588
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted
Mutations:    Insertion, Single point mutation
Mutation detailsA 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). (J:184588)
View phenotypes for all genotypes (concatenated display).
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Acta1 Mutation:  1 strain or line available
Original:  J:184588 Nguyen MA, et al., Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. Brain. 2011 Dec;134(Pt 12):3516-29
All:  1 reference(s)

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