Tg(ACTA1-TPM3*M9R)4Hrd
Transgene Detail

Summary

• Symbol: Tg(ACTA1-TPM3*M9R)4Hrd
• Name: transgene insertion 4, Edna Hardeman
• MGI ID: MGI:5444208
• Synonyms: HSA-alphaTm^slow(Met9Arg), HSA-alphaTmslow(Met9Arg), HSA-aTm^slow(Met9Arg), HSA-aTmslow(Met9Arg), HSA-TPM3*M9R, Tg(TPM3)^Met9Arg, TPM3(Met9Arg)
• Transgene: Tg(ACTA1-TPM3*M9R)4Hrd Location: unknown
• Alliance: Tg(ACTA1-TPM3*M9R)4Hrd page

Transgene origin

• Strain of Origin: FVB/NJ

Transgene description

• Transgene Type: Transgenic (Dominant negative, Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(ACTA1-TPM3*M9R)4Hrd expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  TPM3 (7170)

  Tpm3	(MGI:1890149)

• Mutation details: First, the human tropomyosin 3 gene was used to isolate a full-length alphaTm^slow cDNA sequence. Next, the sequence was modified by site-directed mutagenesis to have the ATG-to-AGG base pair substitution encoding a methionine-to-arginine substitution at codon 9 (M9R); resulting in the dominant-negative alphaTm^slow(Met9Arg) mutation associated with human nemaline myopathy. The mutant cDNA sequence was placed downstream of a 2.2 kbp human alpha-skeletal actin (ACTA1) promoter sequence, and upstream of a 1022 bp cassette containing the SV40 small t antigen intron and 3' untranslated region. Lines 4, 9 and 14 were generated with high, low and moderate expression levels, respectively. (J:67596)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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tg1  Disease Model	Tg(ACTA1-TPM3*M9R)4Hrd/0	FVB/NJ-Tg(ACTA1-TPM3*M9R)4Hrd

Phenotypes:

Affected Systems	tg1
show or hide all annotated terms
muscle	√
abnormal skeletal muscle morphology	√
abnormal skeletal muscle fiber morphology	√
increased skeletal muscle fiber size	√
abnormal muscle physiology	√
muscle weakness	√
myopathy	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	tg1
nemaline myopathy 1 IDs nemaline myopathy 1       DOID:0110926 MESH:C538348 OMIM:609284 Close	√

Expression

In Structures Affected by this Mutation:

3 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

References

• Original: J:67596 Corbett MA, et al., A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. Hum Mol Genet. 2001 Feb 15;10(4):317-28
• All: 3 reference(s)