Phenotypes Associated with This Genotype

Genotype
MGI:4840250

• Allelic Composition: Cth^tm1Iish/Cth^tm1Iish
• Genetic Background: B6.129-Cth^tm1Iish/Iish

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Proximal muscle atrophy in Cth^tm1Iish/Cth^tm1Iish mice fed a low cysteine diet

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:166184 )

• 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

abnormal circulating amino acid level ( J:166184 )

• 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

decreased circulating creatinine level ( J:166184 )

• in mice fed a low cysteine diet

increased circulating homocysteine level ( J:166184 )

• serum total homocysteine levels are increased compared to in wild-type mice

decreased circulating taurine level ( J:166184 )

• mice exhibit decreased serum taurine levels compared to in wild-type mice

cystathioninuria ( J:166184 )

• urine cystathionine levels are increased compared to in wild-type mice

decreased glutathione level ( J:166184 )

• 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

increased blood urea nitrogen level ( J:166184 )

• in mice fed a low cysteine diet

increased circulating triglyceride level ( J:166184 )

• in mice fed a low cysteine diet

increased circulating alanine transaminase level ( J:166184 )

• in mice fed a low cysteine diet

increased circulating alkaline phosphatase level ( J:166184 )

• in mice fed a low cysteine diet

increased circulating aspartate transaminase level ( J:166184 )

• in mice fed a low cysteine diet

increased circulating serum albumin level ( J:166184 )

• in mice fed a low cysteine diet

decreased lactate dehydrogenase level ( J:166184 )

• in mice fed a low cysteine diet

cellular

increased sensitivity to induced cell death ( J:166184 )

• hepatocytes exhibit increased sensitivity to cysteine depletion compared with similarly treated wild-type cells

• however, hepatocytes exhibit normal sensitivity to methionine depletion

increased cellular sensitivity to oxidative stress ( J:166184 )

• with reduced total antioxidant activities

liver/biliary system

abnormal liver morphology ( J:166184 )

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

muscle

decreased skeletal muscle fiber diameter ( J:166184 )

• in mice fed a low cysteine diet

increased susceptibility to induced muscular atrophy ( J:166184 )

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

renal/urinary system

cystathioninuria ( J:166184 )

• urine cystathionine levels are increased compared to in wild-type mice

behavior/neurological

paralysis ( J:166184 )

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

growth/size/body

increased susceptibility to weight loss ( J:166184 )

• mice fed a low cysteine diet start losing weight daily compared with similarly treated wild-type mice

postnatal growth retardation ( J:166184 )

• slight in males fed standard chow

• in mice fed a low cysteine diet

cardiovascular system

cardiovascular system phenotype ( J:166184 )

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