Slc22a5^jvs
Spontaneous Allele Detail

Summary

• Symbol: Slc22a5^jvs
• Name: solute carrier family 22 (organic cation transporter), member 5; juvenile visceral steatosis
• MGI ID: MGI:1856926
• Synonyms: jvs, Octn2 -
• Gene: Slc22a5 Location: Chr11:53755368-53782486 bp, - strand Genetic Position: Chr11, 32.02 cM
• Alliance: Slc22a5^jvs page

Mutation origin

• Strain of Origin: C3.OH-H2^o2

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A transversion point mutation from CTG (Leu) to CGG (Arg) at codon 352 (p.L352R) located within the sixth transmembrane domain. This amino acid replacement possibly causes the conformational change of the protein that leads to dysfunction of the gene product. (J:51313, J:51918)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Slc22a5 Mutation: 31 strains or lines available

References

• Original: J:14288 Hayakawa JI, et al., Inheritance of juvenile visceral steatosis (jvs) found in C3H-H-2^o mice. Mouse Genome. 1990;86:261
• All: 42 reference(s)