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Dnah11iv
Spontaneous Allele Detail
Summary
Symbol: Dnah11iv
Name: dynein, axonemal, heavy chain 11; situs inversus viscerum
MGI ID: MGI:1856917
Synonyms: iv
Gene: Dnah11  Location: Chr12:117841717-118162778 bp, - strand  Genetic Position: Chr12, 63.25 cM
Alliance: Dnah11iv page
Mutation
origin
Strain of Origin:  (C3HeB/Fe x STOCK Frem2my)F3
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA G-to-A transition mutation led to a substitution of glutamate with lysine at position 2271 (p.E2271K)in the encoded protein. This residue is located between the second and third P-loop motifs, a highly conserved region that constitutes the motor domain. (J:44093)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 101 assay results
In Structures Affected by this Mutation: 14 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 4 strains available      Cell Lines: 0 lines available
Carrying any Dnah11 Mutation:  217 strains or lines available
References
Original:  J:24771 Hummel KP, et al., Situs Viscerum Inversus. Mouse News Lett. 1956;14:21
All:  45 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
04/16/2024
MGI 6.23
The Jackson Laboratory