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Phenotypes Associated with This Genotype
Genotype
MGI:4457410
Allelic
Composition
Slc23a1tm1Mlev/Slc23a1tm1Mlev
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc23a1tm1Mlev mutation (0 available); any Slc23a1 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice of homozygous dams die due to retention or are stillborn
• however, maternal supplementation with ascorbate rescues lethality
• lethargic pups of homozygous dams die within 72 hours of birth
• however, maternal supplementation with ascorbate rescues lethality

homeostasis/metabolism
• mice exhibit reduced or undetectable accumulation of an ascorbate analog in the liver compared with wild-type mice
• female mice exhibit reduced ascorbate absorption in the heart, kidney, liver, and lung compared with wild-type mice
• male mice exhibit decreased ascorbate absorption in the kidney compared with wild-type mice
• mice exhibit decreased whole body ascorbate concentration with increased ascorbate excretion compared with wild-type mice
• however, intestinal accumulation of an ascorbate analog is normal
• mice exhibit 16- to 18-fold and 6- to 7-fold (for females and males, respectively) increase in ascorbate clearance and fractional excretion compared with wild-type mice
• mice exhibit decreased whole body ascorbate concentration with increased ascorbate excretion compared with wild-type mice
• however, mice exhibit normal creatinine and insulin clearance
• in female and male mice, urine ascorbate concentration is 3-fold more than in wild-type mice
• mice exhibit increased glucuronic acid urine concentration compared with wild-type mice indicating increased ascorbate biosynthesis
• in female mice, plasma ascorbate concentration is 3-fold less than in wild-type mice while urine concentration is equivalently increased
• pregnant female mice exhibit a more than 2-fold increase in ascorbate concentration compared with wild-type mice
• in male mice, plasma ascorbate concentration is 2-fold less than in wild-type mice while urine concentration is increased 3-fold
• healthy pups exhibit increased body and plasma ascorbate levels compared with lethargic homozygotes
• female mice exhibit reduced ascorbate absorption in the heart, kidney, liver, and lung compared with wild-type mice
• male mice exhibit decreased ascorbate absorption in the kidney compared with wild-type mice
• mice exhibit decreased whole body ascorbate concentration with increased ascorbate excretion compared with wild-type mice
• mice exhibit increased glucuronic acid urine concentration compared with wild-type mice indicating increased ascorbate biosynthesis
• however, supplementation with ascorbate increases plasma concentration

behavior/neurological
• in some mice
• in mice that die after birth

renal/urinary system
• mice exhibit 16- to 18-fold and 6- to 7-fold (for females and males, respectively) increase in ascorbate clearance and fractional excretion compared with wild-type mice
• mice exhibit decreased whole body ascorbate concentration with increased ascorbate excretion compared with wild-type mice
• however, mice exhibit normal creatinine and insulin clearance
• in female and male mice, urine ascorbate concentration is 3-fold more than in wild-type mice
• mice exhibit increased glucuronic acid urine concentration compared with wild-type mice indicating increased ascorbate biosynthesis
• mice exhibit 16- to 18-fold and 6- to 7-fold (for females and males, respectively) increase in ascorbate clearance and fractional excretion compared with wild-type mice
• however, mice exhibit normal creatinine and insulin clearance

digestive/alimentary system
• mice exhibit reduced or undetectable accumulation of an ascorbate analog in the liver compared with wild-type mice
• female mice exhibit reduced ascorbate absorption in the heart, kidney, liver, and lung compared with wild-type mice
• male mice exhibit decreased ascorbate absorption in the kidney compared with wild-type mice
• mice exhibit decreased whole body ascorbate concentration with increased ascorbate excretion compared with wild-type mice
• however, intestinal accumulation of an ascorbate analog is normal

cellular
• homozygous dams produce pups exhibit lethargy and lethality within 72 hours of birth whether pups are homozygous or heterozygous for the allele


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
03/19/2024
MGI 6.23
The Jackson Laboratory