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| Nomenclature |
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Symbol:
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Slc22a5jvs
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Name:
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solute carrier family 22 (organic cation transporter), member 5;
juvenile visceral steatosis
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MGI ID: |
MGI:1856926 |
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Synonyms: |
jvs, Octn2 - |
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Gene:
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Slc22a5
Location:
Chr11:53864542-53891660 bp, - strand
Genetic Position: Chr11,
32.02 cM
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Mutation
origin |
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Strain of Origin:
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C3.OH-H2o2
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A transversion point mutation from CTG (Leu) to CGG (Arg) at codon 352 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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Slc22a5 Mutation:
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2 strains or lines available |
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| References |
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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
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All: |
39 reference(s)
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Analysis Tools
