Sord^C57BL/Lia
Spontaneous Allele Detail

Summary

• Symbol: Sord^C57BL/Lia
• Name: sorbitol dehydrogenase; sorbitol dehydogenase deficiency
• MGI ID: MGI:3616090
• Synonyms: SD^-, Sdh1-^c, SDH-deficient, SDH null
• Gene: Sord Location: Chr2:122065320-122095818 bp, + strand Genetic Position: Chr2, 60.59 cM
• Alliance: Sord^C57BL/Lia page

Mutation origin

• Strain of Origin: C57BL/LiA

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: A G-to-A substitution at the first nucleotide of intron 8 eliminates exon 8 splice donor site G-GT by changing it G-AT. 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 19 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)