Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Slc22a5jvs
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:	Slc22a5jvs page

Strain of Origin:

C3.OH-H2o2

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

7 anatomical structure(s)

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:	29 strains or lines available

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