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Phenotypes Associated with This Genotype
Genotype
MGI:6202041
Allelic
Composition
Slc3a1tm1Jat/Slc3a1tm1Jat
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc3a1tm1Jat mutation (0 available); any Slc3a1 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• both males and females develop cystinuria (J:254981)
(J:254803)
• males show smooth muscle hypertrophy and basement membrane thickening of varying degrees
• males develop cysteine stones in the kidney but to a lesser degree than in the bladder
• males exhibit partial bladder outlet obstruction due to bladder stones
• bladder weight of males is 4-fold higher than in controls and males exhibit an increase in bladder mass
• mice accumulate urinary bladder stones at an average rate of 1 mm3/day (J:254803)
• mice treated with tiopronin, a sulfhydryl drug, or L-cystine dimethylester show no difference in cystine stone growth rate (J:254803)
• treatment with the pro-antioxidant sulforaphane has a modest effect on cystine stone growth while treatment with alpha-lipoic acid strongly suppresses stone growth (J:254803)
• males treated with alpha-lipoic acid before stone formation show delayed stone formation, lower overall stone volume accumulation, and form fewer stones (J:254803)
• males treated with alpha-lipoic acid after forming stones show reduced growth rate of existing stones and withdrawal of alpha-lipoic acid results in reversion of stone growth rate (J:254803)
• all males develop cysteine stones in the bladder, ranging in number of and size of stones (J:254981)
• however, females do not exhibit bladder stones (J:254981)
• intravesical pressure at capacity is lower in females but is normal in males
• both males and females show poor compliance (rate of intravesical pressure rise over the first 20% bladder volume) compared to controls, with males being worse than females
• both maximal contractile response and the rate of tension generation (contractile responses to neurogenic stimulation) are reduced in males, with mice responding between 20-30% of the response of controls
• the contractile responses to ATP (purinergic receptor agonist), KCl (smooth muscle membrane depolarization), and carbachol (muscarinic agonist) are also decreased in males
• females show slightly decreased contractile responses
• however, the contractile response to phenylephrine (alpha-adrenergic agonist) is normal
• the volume at capacity of bladder is lower in males
• females exhibit increased volume compared to males
• females exhibit decreased voiding pressure

homeostasis/metabolism
• both males and females develop cystinuria (J:254981)
(J:254803)

muscle
• males show smooth muscle hypertrophy and basement membrane thickening of varying degrees
• both maximal contractile response and the rate of tension generation (contractile responses to neurogenic stimulation) are reduced in males, with mice responding between 20-30% of the response of controls
• the contractile responses to ATP (purinergic receptor agonist), KCl (smooth muscle membrane depolarization), and carbachol (muscarinic agonist) are also decreased in males
• females show slightly decreased contractile responses
• however, the contractile response to phenylephrine (alpha-adrenergic agonist) is normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cystinuria DOID:9266 OMIM:220100
J:254803 , J:254981


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
02/23/2021
MGI 6.16
The Jackson Laboratory