Phenotypes associated with this allele

• Allele Symbol: Ass1^fold
• Allele Name: follicular dystrophy
• Allele ID: MGI:3696404
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ass1^fold/Ass1^fold	B6Ei.P-Ass1^fold/GrsrJ	MGI:3707513
hm2	Ass1^fold/Ass1^fold	involves: C57BL/6JEiJ * P/J	MGI:3697171
ht3	Ass1^bar/Ass1^fold	involves: C57BL/6Ei * C57BL/6J * OF1 * P/J	MGI:4838091

Genotype
MGI:3707513

hm1

• Allelic Composition: Ass1^fold/Ass1^fold
• Genetic Background: B6Ei.P-Ass1^fold/GrsrJ

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

Small body size, lack of hair, and wrinkled skin in one week old Ass1^fold/Ass1^fold(right) mice

mortality/aging

premature death ( J:165341 )

growth/size/body

decreased body length ( J:165341 )

behavior/neurological

tremors ( J:165341 )

abnormal gait ( J:165341 )

• unstable gait

homeostasis/metabolism

abnormal circulating amino acid level ( J:165341 )

• P14 and P21 mice show a 10- to 40-fold increase in the levels of citrulline, and a 1.5- to threefold increase in the plasma levels of many amino acids, including glutamine, cystine, methionine, and lysine and arginine, glutamic acid, leucine, and ornithine levels are decreased

increased circulating citrulline level ( J:165341 )

• P14 and P21 mice show a 10- to 40-fold increase in plasma citrulline levels

increased circulating ammonia level ( J:165341 )

• Plasma ammonia concentration at P14 is elevated

abnormal enzyme/coenzyme activity ( J:165341 )

• argininosuccinate synthetase 1 activity is significantly decreased in liver

nervous system

abnormal cerebellar granule cell migration ( J:165341 )

• granule cell migration appears to be delayed by several days

decreased brain weight ( J:165341 )

cellular

abnormal cerebellar granule cell migration ( J:165341 )

• granule cell migration appears to be delayed by several days

oxidative stress ( J:165341 )

• decreased immunohistochemical staining for nitrotyrosine in cerebellum compared to wild-type , correlating with decreased superoxide or NO radical formation

integument

delayed hair appearance ( J:165341 )

sparse hair ( J:165341 )

• enough hair grows in by 3 weeks of age for a sparse coat

abnormal hair follicle morphology ( J:165341 )

• follicular dystrophy

hyperkeratosis ( J:165341 )

epidermal hyperplasia ( J:165341 )

wrinkled skin ( J:165341 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
citrullinemia		DOID:9273		J:165341

Genotype
MGI:3697171

hm2

• Allelic Composition: Ass1^fold/Ass1^fold
• Genetic Background: involves: C57BL/6JEiJ * P/J

mortality/aging

premature death ( J:117339 )

• no homozygotes survive long enough to breed

postnatal lethality ( J:117339 )

• most homozygotes die by 3 weeks of age

growth/size/body

decreased body size ( J:117339 )

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:117339 )

N • ABR assessment shows normal hearing

vision/eye

vision/eye phenotype ( J:117339 )

N • normal iris, lens and retinas by opthalmoscopic examination

integument

delayed hair appearance ( J:117339 )

sparse hair ( J:117339 )

• enough hair grows in by 3 weaks of age for a sparse coat

abnormal hair shaft morphology ( J:117339 )

• the hair follicle does not produce a normal hair fiber

abnormal hair follicle development ( J:117339 )

wrinkled skin ( J:117339 )

• skin is wrinkled by 2 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
citrullinemia		DOID:9273		J:165341

Genotype
MGI:4838091

ht3

• Allelic Composition: Ass1^bar/Ass1^fold
• Genetic Background: involves: C57BL/6Ei * C57BL/6J * OF1 * P/J

mortality/aging

premature death ( J:165341 )

growth/size/body

decreased body length ( J:165341 )

behavior/neurological

tremors ( J:165341 )

abnormal gait ( J:165341 )

• unstable gait

homeostasis/metabolism

abnormal circulating amino acid level ( J:165341 )

• P14 and P21 mice show a 10- to 40-fold increase in the levels of citrulline, and a 1.5- to threefold increase in the plasma levels of many amino acids, including glutamine, cystine, methionine, and lysine and lysine and arginine, glutamic acid, leucine, and ornithine levels are decreased

increased circulating citrulline level ( J:165341 )

• P14 and P21 mice show a 10- to 40-fold increase in plasma citrulline levels

increased circulating ammonia level ( J:165341 )

• Plasma ammonia concentration at P14 is elevated

abnormal enzyme/coenzyme activity ( J:165341 )

• argininosuccinate synthetase 1 activity is significantly decreased in liver

nervous system

abnormal cerebellar granule cell migration ( J:165341 )

• granule cell migration appears to be delayed by several days

abnormal cerebellum external granule cell layer morphology ( J:165341 )

• reduced cellularity

decreased brain weight ( J:165341 )

abnormal cerebellar granule layer morphology ( J:165341 )

• reduced cellularity

integument

delayed hair appearance ( J:165341 )

sparse hair ( J:165341 )

• enough hair grows in by 3 weeks of age for a sparse coat

abnormal hair follicle morphology ( J:165341 )

• follicular dystrophy

hyperkeratosis ( J:165341 )

epidermal hyperplasia ( J:165341 )

cellular

abnormal cerebellar granule cell migration ( J:165341 )

• granule cell migration appears to be delayed by several days

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
citrullinemia		DOID:9273		J:165341