Phenotypes Associated with This Genotype

Genotype
MGI:5308984

• Allelic Composition: Asl^tm1Brle/Asl^tm1Brle
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

premature death ( J:180208 )

• 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

thymus cortex hypoplasia ( J:180208 )

• thin

decreased lymphocyte cell number ( J:180208 )

• in the spleen and thymus

increased macrophage cell number ( J:180208 )

• in the thymus cortex

increased spleen red pulp amount ( J:180208 )

decreased spleen germinal center number ( J:180208 )

homeostasis/metabolism

decreased circulating arginine level ( J:180208 )

• mice exhibit decreased plasma arginine levels compared with wild-type mice

increased circulating citrulline level ( J:180208 )

• mice exhibit increased plasma citrulline levels compared with wild-type mice

increased circulating ammonia level ( J:180208 )

decreased circulating alanine transaminase level ( J:180208 )

decreased circulating aspartate transaminase level ( J:180208 )

abnormal nitric oxide homeostasis ( J:180208 )

• decreased nitrosylation in the liver and heart

cardiovascular system

abnormal myocardial fiber morphology ( J:180208 )

• atrophic in the myocardium

increased systemic arterial diastolic blood pressure ( J:180208 )

• however, mice treated with sodium nitrite, arginine and sodium benzoate exhibit normalizes blood pressure

increased systemic arterial systolic blood pressure ( J:180208 )

• however, mice treated with sodium nitrite, arginine and sodium benzoate exhibit normalizes blood pressure

decreased vasodilation ( J:180208 )

• impaired in response to acetylcholine treatment

• however, relaxation in response to sodium nitroprusside is normal

integument

abnormal coat/ hair morphology ( J:180208 )

• abnormal hair patterning by 2 weeks of age

abnormal hair follicle morphology ( J:180208 )

• small and disorganized

small hair follicles ( J:180208 )

abnormal dermal layer morphology ( J:180208 )

• atrophic

epidermal atrophy ( J:180208 )

growth/size/body

decreased body weight ( J:180208 )

• at 3 and 4 weeks of age

• however, mice treated with sodium nitrite or sodium nitrite, arginine and sodium benzoate exhibit increased weight

postnatal growth retardation ( J:180208 )

• by 2 weeks of age

renal/urinary system

abnormal renal glomerulus morphology ( J:180208 )

• smaller than in wild-type mice

decreased creatinine clearance ( J:180208 )

muscle

abnormal myocardial fiber morphology ( J:180208 )

• atrophic in the myocardium

decreased vasodilation ( J:180208 )

• impaired in response to acetylcholine treatment

• however, relaxation in response to sodium nitroprusside is normal

hematopoietic system

thymus cortex hypoplasia ( J:180208 )

• thin

abnormal erythrocyte morphology ( J:180208 )

• mice exhibit more numerous acanthocytes and fewer spherocytes than in wild-type mice

acanthocytosis ( J:180208 )

• more numerous acanthocytes than in wild-type mice

decreased lymphocyte cell number ( J:180208 )

• in the spleen and thymus

increased macrophage cell number ( J:180208 )

• in the thymus cortex

increased spleen red pulp amount ( J:180208 )

decreased spleen germinal center number ( J:180208 )

endocrine/exocrine glands

thymus cortex hypoplasia ( J:180208 )

• thin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
argininosuccinic aciduria		DOID:14755	OMIM:207900	J:196817