Acta1^tm1Hrd
Targeted Allele Detail

Summary

• Symbol: Acta1^tm1Hrd
• Name: actin alpha 1, skeletal muscle; targeted mutation 1, Edna C Hardeman
• MGI ID: MGI:5424775
• Synonyms: Acta1(H40Y), Acta1^{tm1(H40Y;neo)Hrd}
• Gene: Acta1 Location: Chr8:124618508-124621490 bp, - strand Genetic Position: Chr8, 72.26 cM
• Alliance: Acta1^tm1Hrd page

Mutation origin

• 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⁺

Mutation description

• Allele Type: Targeted (Dominant negative, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: 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). (J:184588)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• 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: 14 strains or lines available

References

• 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: 9 reference(s)