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Phenotypes Associated with This Genotype
Genotype
MGI:3852334
Allelic
Composition
Slc25a13tm1Lct/Slc25a13tm1Lct
Genetic
Background
either: 129/Sv-Slc25a13tm1Lct or (involves: 129S1/Sv * 129X1/SvJ * CD-1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc25a13tm1Lct mutation (0 available); any Slc25a13 mutation (135 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• following treatment with salt or NH4Cl, hepatic ammonia, glutamic acid, and glutamine levels are elevated compared to in similarly treated wild-type mice
• following treatment with NH4Cl, aspartic acid levels are higher than in similarly treated wild-type mice
• when the liver is perfused with lactate, glucose production is reduced compared to in similarly treated wild-type mice
• however, glucose production following hepatic perfusion with pyruvate is normal
• following treatment with NH4Cl, mice exhibit reduced urea production compared with similarly treated wild-type mice
• however, urea production can be partially rescued by treatment with asparagine

renal/urinary system
• following treatment with NH4Cl, mice exhibit reduced urea production compared with similarly treated wild-type mice
• however, urea production can be partially rescued by treatment with asparagine

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT citrullinemia DOID:9273 OMIM:215700
OMIM:603471
OMIM:605814
J:87578


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/14/2020
MGI 6.14
The Jackson Laboratory