Dock7^mnlt
Spontaneous Allele Detail

Summary

• Symbol: Dock7^mnlt
• 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: Dock7^mnlt page

Dock7^mnlt/Dock7^mnlt 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 details: This 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

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)