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Phenotypes Associated with This Genotype
Genotype
MGI:5308984
Allelic
Composition
Asltm1Brle/Asltm1Brle
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Asltm1Brle mutation (1 available); any Asl mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within the first 3 to 4 weeks due to multiorgan failure
• however, mice treated with sodium nitrite, arginine, arginine and sodium benzoate, or all three therapies exhibit improved survival

immune system
• in the spleen and thymus
• in the thymus cortex

homeostasis/metabolism
• mice exhibit increased plasma citrulline and decreased arginine levels compared with wild-type mice
• decreased nitrosylation in the liver and heart

cardiovascular system
• atrophic in the myocardium
• impaired in response to acetylcholine treatment
• however, relaxation in response to sodium nitroprusside is normal
• however, mice treated with sodium nitrite, arginine and sodium benzoate exhibit normalizes blood pressure
• however, mice treated with sodium nitrite, arginine and sodium benzoate exhibit normalizes blood pressure

integument
• abnormal hair patterning by 2 weeks of age
• small and disorganized

growth/size/body
• at 3 and 4 weeks of age
• however, mice treated with sodium nitrite or sodium nitrite, arginine and sodium benzoate exhibit increased weight
• by 2 weeks of age

renal/urinary system
• smaller than in wild-type mice

muscle
• atrophic in the myocardium
• impaired in response to acetylcholine treatment
• however, relaxation in response to sodium nitroprusside is normal

hematopoietic system
• mice exhibit more numerous acanthocytes and fewer spherocytes than in wild-type mice
• more numerous acanthocytes than in wild-type mice
• in the spleen and thymus
• in the thymus cortex

endocrine/exocrine glands

Mouse Models of Human Disease
OMIM ID Ref(s)
Argininosuccinic Aciduria 207900 J:196817


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory