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

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

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
DO ID OMIM ID(s) Ref(s)
argininosuccinic aciduria DOID:14755 OMIM:207900
J:196817


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
03/12/2024
MGI 6.23
The Jackson Laboratory