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Myh9tm6.1(EGFP/MYH9*)Rsad
Targeted Allele Detail
Summary
Symbol: Myh9tm6.1(EGFP/MYH9*)Rsad
Name: myosin, heavy polypeptide 9, non-muscle; targeted mutation 6.1, Robert S Adelstein
MGI ID: MGI:5285571
Synonyms: AgfpR702C, GFP-IIA(R702C), GFP-NMII-A R702C, NMHCII-A R702C
Gene: Myh9  Location: Chr15:77644788-77726315 bp, - strand  Genetic Position: Chr15, 36.81 cM
Alliance: Myh9tm6.1(EGFP/MYH9*)Rsad page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:175367
Parent Cell Line:  v6.5 (ES Cell)
Strain of Origin:  (C57BL/6 x 129S4/SvJae)F1
Mutation
description
Allele Type:    Targeted (Humanized sequence, Reporter)
Mutation:    Insertion
 
Mutation detailsA cDNA encoding a fusion protein comprising enhanced green fluorescent protein (EGFP) joined to the N-terminus of a mutant human myosin, heavy polypeptide 9, non-muscle (MYH9) protein, followed by the SV40 polyadenylation signal and a loxP-flanked PGK-neor cassette, was inserted at the ATG translation initiation site in the second exon of the mouse Myh9 gene. An mRNA encoding GFP-tailed mutant human MYO9 is thus expressed from the endogenous mouse promoter in place of the mouse Myo9 transcript. The mutation, which replaces arginine with cysteine at amino acid position 702, in the motor domain of the globular head of the myosin protein (R702C), is associated with a human MYH9-related disease (MYH9-RD). The selection cassette has been deleted by Cre recombinase-mediated excision. Immunoblot analysis reveals that the EGFP-tagged human MYH9 protein is expressed at ~80% of the level of the endogenous mouse protein in lung, leukocyte/platelet fraction, megakaryocytes and neutrophils of heterozygous mutant mice. (J:175367)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Myh9 Mutation:  219 strains or lines available
References
Original:  J:175367 Zhang Y, et al., Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. Blood. 2012;119(1):238-5
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/22/2024
MGI 6.24
The Jackson Laboratory