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Diaph1tm1Asal
Targeted Allele Detail
Summary
Symbol: Diaph1tm1Asal
Name: diaphanous related formin 1; targeted mutation 1, Arthur S Alberts
MGI ID: MGI:3722153
Synonyms: Drf1-, mDia1-
Gene: Diaph1  Location: Chr18:37976654-38068529 bp, - strand  Genetic Position: Chr18, 19.71 cM
Alliance: Diaph1tm1Asal page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:124643
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
    The insertion of an EGFP-PGK-neo replaced parts of exons 2 and 6, and all of exons 3-5. (J:124319, J:124643)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 9 assay results
1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 5 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 Diaph1 Mutation:  116 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Myeloproliferative syndrome and Myelodysplastic syndrome (J:124643, J:214460)
References
Original:  J:124643 Peng J, et al., Disruption of the Diaphanous-related formin Drf1 gene encoding mDia1 reveals a role for Drf3 as an effector for Cdc42. Curr Biol. 2003 Apr 1;13(7):534-45
All:  18 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
11/12/2024
MGI 6.24
The Jackson Laboratory