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Dock7mnlt
Spontaneous Allele Detail
Summary
Symbol: Dock7mnlt
Name: dedicator of cytokinesis 7; moonlight
MGI ID: MGI:3795855
Synonyms: mutation 1, Bruce Beutler
Gene: Dock7  Location: Chr4:98824908-99009152 bp, - strand  Genetic Position: Chr4, 45.6 cM, cytoband C6
Alliance: Dock7mnlt page
Dock7mnlt/Dock7mnlt mice exhibit a lightened coat color, a belly spot and hypopigmentation of extremities

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThis mutation has been identified as a deletion within Dock7 that spans exons 22-28 of the gene's 48 exons, with endpoints in introns 22 and 29. Splicing of exon 21 directly to exon 29 yields an mRNA with a 922 bp deletion encompassing nucleotides 2597-3518 (numbering from the A of the translation initiation codon) and shifts the reading frame after codon 865 so that 30 incorrect amino acids are incorporated into the protein before its premature termination. Although the mutation was discovered among the G3 progeny of an ENU mutagenized male mouse, large deletions are not characteristically induced by ENU, and it is presumed to have occurred spontaneously. (J:146458)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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
Carrying any Dock7 Mutation:  111 strains or lines available
References
Original:  J:146458 Blasius AL, et al., Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function. Proc Natl Acad Sci U S A. 2009 Feb 24;106(8):2706-11
All:  1 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
11/19/2024
MGI 6.24
The Jackson Laboratory