Phenotypes associated with this allele

• Allele Symbol: Otc^spf-ash
• Allele Name: abnormal skin and hair
• Allele ID: MGI:1856179
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Otc^spf-ash/Otc^+	involves: C57BL/6	MGI:3851259
ht2	Otc^spf-ash/Otc^+	Not Specified	MGI:2175224
ht3	Otc^spf-ash/Otc^spf	Not Specified	MGI:3850653
ot4	Otc^spf-ash/Y	B6EiC3Sn a/A-Otc^spf-ash/J	MGI:3851332
ot5	Otc^spf-ash/Y	involves: C57BL/6	MGI:3851258
ot6	Otc^spf-ash/Y	Not Specified	MGI:2175223

Genotype
MGI:3851259

ht1

• Allelic Composition: Otc^spf-ash/Otc⁺
• Genetic Background: involves: C57BL/6

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

homeostasis/metabolism

oroticaciduria ( J:23205 )

♀ • females excrete significantly higher concentrations of orotic acid than controls during starvation

♀ • under a nitrogen load of 5.6 g tryptone/kg body mass, urinary orotic acid excretion increases even more

renal/urinary system

oroticaciduria ( J:23205 )

♀ • females excrete significantly higher concentrations of orotic acid than controls during starvation

♀ • under a nitrogen load of 5.6 g tryptone/kg body mass, urinary orotic acid excretion increases even more

Genotype
MGI:2175224

ht2

• Allelic Composition: Otc^spf-ash/Otc⁺
• Genetic Background: Not Specified

integument

sparse hair ( J:5476 )

♀ • most heterozygous females appear normal but many show some hair loss

Genotype
MGI:3850653

ht3

• Allelic Composition: Otc^spf-ash/Otc^spf
• Genetic Background: Not Specified

integument

abnormal hair growth ( J:5476 )

♀ • abnormal hair development

Genotype
MGI:3851332

ot4

• Allelic Composition: Otc^spf-ash/Y
• Genetic Background: B6EiC3Sn a/A-Otc^spf-ash/J

behavior/neurological

abnormal spatial learning ( J:108979 )

♂ • mutants are unable to locate the hidden platform by day 4 in the Morris water maze compared to wild-type which find it by this time

abnormal spatial reference memory ( J:108979 )

♂ • mutants are unable to locate the hidden platform by day 4 in the Morris water maze compared to wild-type which find it by this time

abnormal spatial working memory ( J:108979 )

♂ • in a two trial Y-maze, mutants show reduced retention memory, unable to distinguish the novel arm from the other two arms

growth/size/body

decreased body size ( J:108979 )

♂ • smaller than mature 6-7 month old wild-type mice

homeostasis/metabolism

increased circulating ammonia level ( J:108979 )

♂

immune system

increased susceptibility to endotoxin shock ( J:108979 )

♂ • mutants are more sensitive to immune challenge with LPS than wild-type, with significant delay in recovery time from sickness

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ornithine carbamoyltransferase deficiency		DOID:9271	OMIM:311250	J:108979

Genotype
MGI:3851258

ot5

• Allelic Composition: Otc^spf-ash/Y
• Genetic Background: involves: C57BL/6

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:23205 )

♂ • most mutants parasitized with mouse ticks (Myocoptes musculinus) do not survive

homeostasis/metabolism

abnormal homeostasis ( J:23205 )

♂ • concentration of carbamylphosphate in the small intestine during starvation is about 3 times that of controls

oroticaciduria ( J:23205 )

♂ • males excrete significantly higher concentrations of orotic acid than controls during starvation

♂ • under a stressful condition of a nitrogen load of 5.6 g tryptone/kg body mass, urinary orotic acid excretion increases even more

immune system

increased susceptibility to parasitic infection ( J:23205 )

♂ • most mutants parasitized with mouse ticks (Myocoptes musculinus) do not survive

renal/urinary system

oroticaciduria ( J:23205 )

♂ • males excrete significantly higher concentrations of orotic acid than controls during starvation

♂ • under a stressful condition of a nitrogen load of 5.6 g tryptone/kg body mass, urinary orotic acid excretion increases even more

Genotype
MGI:2175223

ot6

• Allelic Composition: Otc^spf-ash/Y
• Genetic Background: Not Specified

homeostasis/metabolism

increased circulating ammonia level ( J:26977 )

♂

abnormal protein level ( J:26976 )

♂ • mutants show a 12% and 33% increase in total liver and mitochondrial protein content, respectively, compared to controls

oroticaciduria ( J:26977 )

♂ • orotic aciduria

abnormal enzyme/coenzyme activity ( J:26976 )

♂ • mitochondrial specific activity of carbamoyl-phosphate synthetase (ammonia) and glutamate dehydrogenase is about 15% lower than in controls

♂ • citrate synthase activity is increased in the liver but specific activity in mitochondria is similar to controls

♂ • activities of beta-hydroxybutyrate dehydrogenase and cytochrome oxidase are 22% higher and 30% lower, respectively, in the liver

decreased ornithine carbamoyltransferase activity ( J:7199 )

♂ • liver extracts from hemizygous males have 5-10% of normal ornithine transcarbamylase activity

renal/urinary system

oroticaciduria ( J:26977 )

♂ • orotic aciduria

cellular

abnormal mitochondrial physiology ( J:26976 )

♂ • coupled and uncoupled mitochodria synthesize citrulline at unexpectedly high rates in the presence of 10 mM ornithine and the substrates for carbamoyl phosphate synthesis, however these rates are somewhat lower than rates of normal mitochondria; this difference arises from a lower carbamoyl-phosphate synthetase activity

♂ • at external ornithine concentrations of less than 2 mM, a smaller fraction of the carbamoyl phophate synthesized is converted into citrulline than in controls

liver/biliary system

enlarged liver ( J:26976 )

♂

increased liver weight ( J:26976 )

♂ • liver weight per unit body weight is about 20% greater than normal

integument

sparse hair ( J:26977 )

♂

wrinkled skin ( J:26977 )

♂

growth/size/body

enlarged liver ( J:26976 )

♂

increased liver weight ( J:26976 )

♂ • liver weight per unit body weight is about 20% greater than normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ornithine carbamoyltransferase deficiency		DOID:9271	OMIM:311250	J:26977