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SordC57BL/Lia
Spontaneous Allele Detail
Nomenclature
Symbol: SordC57BL/Lia
Name: sorbitol dehydrogenase; sorbitol dehydogenase deficiency
MGI ID: MGI:3616090
Synonyms: SD-, Sdh1-c, SDH-deficient, SDH null
Gene: Sord  Location: Chr2:122234839-122265337 bp, + strand  Genetic Position: Chr2, 60.59 cM
Mutation
origin
Strain of Origin:  C57BL/LiA
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA point mutation substitutes an adenine for guanine at the first nucleotide of the GT consensus of the splice donor site of intron 8. This results in aberrantly spliced transcripts that do not encode a functional protein. Western blot analysis demonstrated a lack of encoded protein in a number of tissues tested when compared to controls, and activity assays fail to detect active protein in null tissue extracts. (J:44612)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Sord Mutation:  6 strains or lines available
References
Original:  J:7055 Holmes RS, et al., Sorbitol dehydrogenase genetics in the mouse: a 'null' mutant in a 'European' C57BL strain. Anim Blood Groups Biochem Genet. 1982;13(4):263-72
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory