About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:4840250
Allelic
Composition
Cthtm1Iish/Cthtm1Iish
Genetic
Background
B6.129-Cthtm1Iish
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cthtm1Iish mutation (0 available); any Cth mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Proximal muscle atrophy in Cthtm1Iish/Cthtm1Iish mice fed a low cysteine diet

mortality/aging
• mice fed a low cysteine diet die unlike similarly treated wild-type mice
• mice injected with paraquat exhibit decreased survival compared to similarly treated wild-type mice
• mice fed a low cysteine diet and treated with paraquat exhibit a further decreased in survival compared with similarly treated wild-type mice

homeostasis/metabolism
• mice exhibit serum homocystine, total homocysteine, and cystathionine unlike in wild-type mice
• however, serum methionine levels are normal and mice fed a low cysteine diet do not exhibit an increase in serum homocysteine
• in mice fed a low cysteine diet
• serum total homocysteine levels are increased compared to in wild-type mice
• mice exhibit decreased serum taurine levels compared to in wild-type mice
• urine cystathionine levels are increased compared to in wild-type mice
• liver extracts exhibit lower levels of total glutathione compared with wild-type extracts
• mice fed a low cysteine diet exhibit lower levels of total glutationine in the skeletal muscle, liver, heart, and brain compared with similarly treated wild-type mice
• however, mice fed standard chow exhibit normal total glutathione levels in femur skeletal muscle, kidney, heart, and brain extracts
• in mice fed a low cysteine diet
• in mice fed a low cysteine diet
• in mice fed a low cysteine diet
• in mice fed a low cysteine diet
• in mice fed a low cysteine diet
• in mice fed a low cysteine diet
• in mice fed a low cysteine diet

cellular
• hepatocytes exhibit increased sensitivity to cysteine depletion compared with similarly treated wild-type cells
• however, hepatocytes exhibit normal sensitivity to methionine depletion
• with reduced total antioxidant activities

liver/biliary system
• liver extracts exhibit lower levels of total glutathione compared with wild-type extracts

muscle
• in mice fed a low cysteine diet
• in the abdominal regions, proximal skeletal muscle, trapezius, and rectus femoris muscles of mice fed a low cysteine diet

renal/urinary system
• urine cystathionine levels are increased compared to in wild-type mice

behavior/neurological
• in mice fed a low cysteine diet, beginning in the lower extremities and progressing to the upper extremities

growth/size/body
• mice fed a low cysteine diet start losing weight daily compared with similarly treated wild-type mice
• slight in males fed standard chow
• in mice fed a low cysteine diet

cardiovascular system
N
• mice exhibit normal blood pressure

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cystathioninuria DOID:0090142 OMIM:219500
J:166184


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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/09/2022
MGI 6.21
The Jackson Laboratory