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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Otcspf
sparse fur
MGI:1856178
Summary 17 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Otcspf/Otcspf involves: CD-1 MGI:2175225
hm2
 		Otcspf/Otcspf Not Specified MGI:3851110
ht3
 		Otcspf/Otc+ involves: C3H/HeJ * C57BL/6J MGI:3851107
ht4
 		Otcspf/Otc+ Not Specified MGI:2175226
ht5
 		Otcspf-ash/Otcspf Not Specified MGI:3850653
cx6
 		Foxp3sfOtcspf/Y involves: 129/Rl MGI:3590072
cx7
 		B2mtm1Jae/B2mtm1Jae
Foxp3sfOtcspf/Y 		involves: 129/Rl * 129S2/SvPas MGI:3590073
cx8
 		Cd4tm1Litt/Cd4tm1Litt
Foxp3sfOtcspf/Y 		involves: 129/Rl * 129S2/SvPas MGI:3590077
cx9
 		Acadsdel-J/Acadsdel-J
Otcspf/Y 		involves: BALB/cByJ * CD-1 MGI:3850512
cx10
 		Acadsdel-J/Acadsdel-J
Otcspf/Otc+ 		involves: BALB/cByJ * CD-1 MGI:3850513
cx11
 		Acadsdel-J/Acads+
Otcspf/Y 		involves: BALB/cByJ * CD-1 MGI:3850518
cx12
 		Acadsdel-J/Acadsdel-J
Otcspf/Otcspf 		involves: BALB/cByJ * CD-1 MGI:3850519
ot13
 		Otcspf/Y involves: 22A/R * C57BL/6J MGI:3850174
ot14
 		Otcspf/Y involves: C3H/HeJ * C57BL/6J MGI:3851105
ot15
 		Otcspf/Y involves: C57BL/6 MGI:3850173
ot16
 		Otcspf/Y involves: CD-1 MGI:3850182
ot17
 		Otcspf/Y Not Specified MGI:3850111


Genotype
MGI:2175225
hm1
Allelic
Composition		 Otcspf/Otcspf
Genetic
Background		 involves: CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal amino acid level ( J:784 )
• increase in serum and brain glutamine levels
abnormal metabolism ( J:784 )
• alterations of cerebral metabolites; increase in ammonia, glutamine, alpha-ketoglutarate levels, glucose, and lactate levels in the brain and a decrease in glutamate content, ATP, pyruvate, and coA-SH levels
• mitochondrial NADH/NAD+ ratios are lower than in controls while cytosolic NADH/NAD+ is higher in the brain and liver
• increase in ammonia, glutamine, alpha-ketoglutarate, and lactate levels and decrease in ATP and pyruvate levels in the liver

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
ornithine carbamoyltransferase deficiency DOID:9271 OMIM:311250
 J:784




Genotype
MGI:3851110
hm2
Allelic
Composition		 Otcspf/Otcspf
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
decreased body size ( J:30359 )
• young mice are runted

integument
abnormal coat appearance ( J:30359 )
• coat is thin and rough
wrinkled skin ( J:30359 )
• wrinkled skin is observed by 5-7 days of age; variable penetrance




Genotype
MGI:3851107
ht3
Allelic
Composition		 Otcspf/Otc+
Genetic
Background		 involves: C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
reduced female fertility ( J:31237 )
• females are less fertile than controls




Genotype
MGI:2175226
ht4
Allelic
Composition		 Otcspf/Otc+
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal circulating amino acid level ( J:23017 )
• citrulline and arginine concentrations are lower than in controls
oroticaciduria ( J:23017 )
• mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine
decreased ornithine carbamoyltransferase activity ( J:7789 )
• reduced activity of ornithine transcarbamylase (Otc) occurs in colon, small intestine, and liver

renal/urinary system
oroticaciduria ( J:23017 )
• mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine

integument
delayed hair appearance ( J:26975 )
• late fur development, however by weaning, fur looks normal; incomplete and variable penetrance
focal hair loss ( J:26975 )
• incomplete and variable penetrance due to random X-inactivation




Genotype
MGI:3850653
ht5
Allelic
Composition		 Otcspf-ash/Otcspf
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Otcspf mutation (9 available); any Otc mutation (22 available)
Otcspf-ash mutation (1 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
integument
abnormal hair growth ( J:5476 )
• abnormal hair development




Genotype
MGI:3590072
cx6
Allelic
Composition		 Foxp3sfOtcspf/Y
Genetic
Background		 involves: 129/Rl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxp3sf mutation (5 available); any Foxp3 mutation (58 available)
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:20865 )
• anti-CD4 antibody treated (to delete CD4+ T cells) mice survive longer than untreated or anti-CD8 antibody treated mutant mice, to an average of 55 days
postnatal lethality, incomplete penetrance ( J:20865 )
• most untreated and anti-CD8 antibody treated (to delete CD8+ T cells) mice die before day 15 due to scurfy disease

growth/size/body
decreased body weight ( J:20865 )
• decreased body weight in untreated and anti-CD8 antibody treated mutants but not in anti-CD4 antibody treated mutants at day 15
enlarged spleen ( J:20865 )
• untreated and anti-CD8 antibody treated mice that survive past 15 days of age exhibit splenomegaly

immune system
enlarged spleen ( J:20865 )
• untreated and anti-CD8 antibody treated mice that survive past 15 days of age exhibit splenomegaly
increased CD4-positive, alpha-beta T cell number ( J:20865 )
• significantly greater number of activated CD4+CD44+ T cells in the lymph nodes of both untreated and anti-CD8 antibody treated mutant mice
enlarged lymph nodes ( J:20865 )
• untreated and anti-CD8 antibody treated mice that survive past 15 days of age exhibit lymphadenopathy

hematopoietic system
enlarged spleen ( J:20865 )
• untreated and anti-CD8 antibody treated mice that survive past 15 days of age exhibit splenomegaly
anemia ( J:20865 )
• anti-CD8 antibody treated mutant mice exhibit decreased anemia than untreated mutant mice, although both develop anemia
decreased hematocrit ( J:20865 )
• untreated and anti-CD8 antibody treated mutants, but not anti-CD4 antibody treated mutants, exhibit decreased hematocrit at day 15
increased CD4-positive, alpha-beta T cell number ( J:20865 )
• significantly greater number of activated CD4+CD44+ T cells in the lymph nodes of both untreated and anti-CD8 antibody treated mutant mice

integument
skin lesions ( J:20865 )
• untreated and anti-CD8 antibody treated mutants develop skin lesions typical of scurfy disease, while anti-CD4 antibody treated mutants exhibit dramatically reduced lesions




Genotype
MGI:3590073
cx7
Allelic
Composition		 B2mtm1Jae/B2mtm1Jae
Foxp3sfOtcspf/Y
Genetic
Background		 involves: 129/Rl * 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
B2mtm1Jae mutation (8 available); any B2m mutation (122 available)
Foxp3sf mutation (5 available); any Foxp3 mutation (58 available)
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
decreased body size ( J:20865 )
enlarged spleen ( J:20865 )

immune system
increased plasma cell number ( J:20865 )
• plasma cell hyperplasia within the spleen and lymph nodes
increased CD4-positive, alpha-beta T cell number ( J:20865 )
• greater percentage of CD45RBdullCD4+ T cells than in homozygous B2m mice
abnormal interleukin level ( J:20865 )
• increased amounts of IL-4, IL-6, and IL-10 and decreased amounts of IL-2 in Con A stimulated day 16 splenocytes
abnormal tumor necrosis factor level ( J:20865 )
• decreased amount of TNF-alpha in Con A stimulated day 16 splenocytes
abnormal lymph node morphology ( J:20865 )
• complete disruption of normal architecture, with abundant lymphoblasts and reticular cell hyperplasia
dermatitis ( J:20865 )
• exfoliative dermatitis

hematopoietic system
increased plasma cell number ( J:20865 )
• plasma cell hyperplasia within the spleen and lymph nodes
increased CD4-positive, alpha-beta T cell number ( J:20865 )
• greater percentage of CD45RBdullCD4+ T cells than in homozygous B2m mice

homeostasis/metabolism
abnormal interleukin level ( J:20865 )
• increased amounts of IL-4, IL-6, and IL-10 and decreased amounts of IL-2 in Con A stimulated day 16 splenocytes
abnormal tumor necrosis factor level ( J:20865 )
• decreased amount of TNF-alpha in Con A stimulated day 16 splenocytes

integument
dermatitis ( J:20865 )
• exfoliative dermatitis




Genotype
MGI:3590077
cx8
Allelic
Composition		 Cd4tm1Litt/Cd4tm1Litt
Foxp3sfOtcspf/Y
Genetic
Background		 involves: 129/Rl * 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cd4tm1Litt mutation (4 available); any Cd4 mutation (85 available)
Foxp3sf mutation (5 available); any Foxp3 mutation (58 available)
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:20865 )
• signs of scurfy disease are delayed and are first seen at 4 weeks of age, with mutants dying at about 6 weeks of age

immune system
abnormal CD8-positive, alpha beta T cell morphology ( J:20865 )
• increase in the percentage of CD4-CD8+CD44+ and CD4-CD8+CD45RBdull T cells compared to homozygous CD4 mice at 15 days of age
• decrease in the percentage of CD4-CD8+ T cells in aged mutants compared with aged homozygous CD4 mice
increased IgG level ( J:20865 )
• increased IgG in 35 day or older mutants, but not in 15 day old mutants
increased IgM level ( J:20865 )
• increased IgM in 35 day or older mutants, but not in 15 day old mutants
abnormal immune system organ morphology ( J:20865 )
• lymphoid organs in 15 day old mutants have typical scurfy lesions in T cell areas, but quiescent B cell areas
enlarged lymph nodes ( J:20865 )
• lymph nodes are normal size at day 15 but are enlarged by day 35
increased interleukin-4 secretion ( J:20865 )
• increased IL-4 production in response to Con A stimulation in aged (P45), but not young (P16) mice, compared to homozygous Cd4 mutant mice
increased interleukin-6 secretion ( J:20865 )
• increased IL-6 production in response to Con A stimulation in aged (P45), but not young (P16) mice, compared to homozygous Cd4 mutant mice
increased tumor necrosis factor secretion ( J:20865 )
• increased TNF-alpha production in response to Con A stimulation in aged (P45), but not young (P16) mice, compared to homozygous Cd4 mutant mice

hematopoietic system
abnormal CD8-positive, alpha beta T cell morphology ( J:20865 )
• increase in the percentage of CD4-CD8+CD44+ and CD4-CD8+CD45RBdull T cells compared to homozygous CD4 mice at 15 days of age
• decrease in the percentage of CD4-CD8+ T cells in aged mutants compared with aged homozygous CD4 mice
increased IgG level ( J:20865 )
• increased IgG in 35 day or older mutants, but not in 15 day old mutants
increased IgM level ( J:20865 )
• increased IgM in 35 day or older mutants, but not in 15 day old mutants




Genotype
MGI:3850512
cx9
Allelic
Composition		 Acadsdel-J/Acadsdel-J
Otcspf/Y
Genetic
Background		 involves: BALB/cByJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acadsdel-J mutation (1 available); any Acads mutation (27 available)
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:4165 )
• 40% mortality in adults

homeostasis/metabolism
aciduria ( J:4165 )
• orotic acid, ethylmalonate, methylsuccinate, and butyrylglycine urinary excretion is higher in pre-weaning mutants than in wild-type controls
• however, levels of orotic acid are lower than in single mutant Otc males and in comparison to single homozygous Acads mutants, levels of ethylmalonate are lower, levels of methlysuccinate are no different, and levels of butyrylglycine and orotic acid are increased

renal/urinary system
aciduria ( J:4165 )
• orotic acid, ethylmalonate, methylsuccinate, and butyrylglycine urinary excretion is higher in pre-weaning mutants than in wild-type controls
• however, levels of orotic acid are lower than in single mutant Otc males and in comparison to single homozygous Acads mutants, levels of ethylmalonate are lower, levels of methlysuccinate are no different, and levels of butyrylglycine and orotic acid are increased

integument




Genotype
MGI:3850513
cx10
Allelic
Composition		 Acadsdel-J/Acadsdel-J
Otcspf/Otc+
Genetic
Background		 involves: BALB/cByJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acadsdel-J mutation (1 available); any Acads mutation (27 available)
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
aciduria ( J:4165 )
• orotic acid, ethylmalonate, methylsuccinate, and butyrylglycine urinary excretion is higher in pre-weaning mutants than in wild-type controls
• however, levels of orotic acid are lower than in single mutant Otc males and in comparison to single homozygous Acads mutants, levels of ethylmalonate are lower, levels of methlysuccinate are no different, and levels of butyrylglycine and orotic acid are increased

renal/urinary system
aciduria ( J:4165 )
• orotic acid, ethylmalonate, methylsuccinate, and butyrylglycine urinary excretion is higher in pre-weaning mutants than in wild-type controls
• however, levels of orotic acid are lower than in single mutant Otc males and in comparison to single homozygous Acads mutants, levels of ethylmalonate are lower, levels of methlysuccinate are no different, and levels of butyrylglycine and orotic acid are increased




Genotype
MGI:3850518
cx11
Allelic
Composition		 Acadsdel-J/Acads+
Otcspf/Y
Genetic
Background		 involves: BALB/cByJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acadsdel-J mutation (1 available); any Acads mutation (27 available)
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
aciduria ( J:4165 )
• butyrylglycine and orotic acid urinary excretion is increased compared to wild-type controls

renal/urinary system
aciduria ( J:4165 )
• butyrylglycine and orotic acid urinary excretion is increased compared to wild-type controls




Genotype
MGI:3850519
cx12
Allelic
Composition		 Acadsdel-J/Acadsdel-J
Otcspf/Otcspf
Genetic
Background		 involves: BALB/cByJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acadsdel-J mutation (1 available); any Acads mutation (27 available)
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:4165 )
• 40% mortality in adults

homeostasis/metabolism
oroticaciduria ( J:4165 )
• orotic acid urinary excretion is increased

renal/urinary system
oroticaciduria ( J:4165 )
• orotic acid urinary excretion is increased




Genotype
MGI:3850174
ot13
Allelic
Composition		 Otcspf/Y
Genetic
Background		 involves: 22A/R * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality ( J:5653 )
• hemizygous males show a high mortality rate by weaning that decreases with crossing into C57BL/6J background
• survival past weaning increases when mice are placed on a low-protein diet at 20-21 days of age

growth/size/body
decreased body size ( J:5653 )

renal/urinary system
orotic acid urinary bladder stones ( J:5653 )
• orotic acid urinary bladder stones occur frequently in hemizygous males

homeostasis/metabolism
decreased ornithine carbamoyltransferase activity ( J:5653 )
• severely reduced activity of liver ornithine transcarbamylase

integument
sparse hair ( J:5653 )
• absence or relative paucity of fur




Genotype
MGI:3851105
ot14
Allelic
Composition		 Otcspf/Y
Genetic
Background		 involves: C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:31237 )
• mean life span is 42 days with 93% mortality by day 88

growth/size/body
decreased body size ( J:31237 )
• smaller by 1 week of age
weight loss ( J:31237 )
• 1-3 days before death, mutants exhibit substantial weight loss

homeostasis/metabolism
decreased circulating arginine level ( J:31237 )
• plasma arginine is reduced
decreased circulating citrulline level ( J:31237 )
• plasma citrulline is 25% of control levels
increased circulating glutamine level ( J:31237 )
• plasma glutamine is 160% of control values
decreased circulating ornithine level ( J:31237 )
• plasma ornithine is reduced
increased circulating ammonia level ( J:31237 )
• plasma ammonium levels are increased
oroticaciduria ( J:31237 )
• urinary orotate excretion is elevated 13-fold

behavior/neurological
abnormal eating behavior ( J:31237 )
• 1-3 days before death, mutants exhibit decreased feeding
decreased grooming behavior ( J:31237 )
• 1-3 days before death, mutants exhibit a decrease in grooming that leads to an unkempt coat appearance
tremors ( J:31237 )
• some moribund mice develop ataxic tremor
decreased locomotor activity ( J:31237 )
• 1-3 days before death, mutants exhibit a decrease in activity
circling ( J:31237 )
• some moribund mice develop rapid circling behavior
tonic-clonic seizures ( J:31237 )
• some moribund mice develop tonic-clonic seizures

nervous system
tonic-clonic seizures ( J:31237 )
• some moribund mice develop tonic-clonic seizures

renal/urinary system
oroticaciduria ( J:31237 )
• urinary orotate excretion is elevated 13-fold

reproductive system
priapism ( J:31237 )
• one-fifth of males remain runted, hairless and develop priapism

integument
sparse hair ( J:31237 )
• mutants have less fur by 1 week of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
ornithine carbamoyltransferase deficiency DOID:9271 OMIM:311250
 J:31237




Genotype
MGI:3850173
ot15
Allelic
Composition		 Otcspf/Y
Genetic
Background		 involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal brain morphology ( J:1966 )
• mutants show a decreased density of serotonin2 (5-HT2) receptors and increased density of serotonin1A (5-HT1A) receptors

behavior/neurological
abnormal head movements ( J:1966 )
• mutants exhibit a significantly decreased head twitch response in response to the serotonin agonist quipazine due to decreased density of 5-HT2 receptors

homeostasis/metabolism
abnormal body temperature homeostasis ( J:1966 )
• mutants show an increase in hypothermia induced by the highest doses of 8-hydroxy(di-n-propylamino)tetralin compared controls due to increased density of 5-HT1A receptors

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
ornithine carbamoyltransferase deficiency DOID:9271 OMIM:311250
 J:1966




Genotype
MGI:3850182
ot16
Allelic
Composition		 Otcspf/Y
Genetic
Background		 involves: CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
increased glutamine level ( J:784 )
• increase in brain glutamine levels
increased circulating glutamine level ( J:784 )
• increase in serum glutamine levels
increased circulating ammonia level ( J:784 , J:2774 , J:23195 )
(J:784)
• mice develop hyperammonemia (J:2774)
• serum ammonia levels are increased by 58% (J:23195)
oroticaciduria ( J:16786 )
• mutants exhibit orotic aciduria that can be treated with various inhibitors such as N-(phosphonoacetyl)-L-aspartate and ornithine but mutants are insensitive to cycloheximide and acivicin
abnormal metabolism ( J:784 , J:2774 )
• alterations of cerebral metabolites; increase in ammonia, glutamine, alpha-ketoglutarate levels, glucose, and lactate levels in the brain and a decrease in glutamate content, ATP, pyruvate, and coA-SH levels (J:784)
• mitochondrial NADH/NAD+ ratios are lower than in controls while cytosolic NADH/NAD+ is higher in the brain and liver (J:784)
• increase in ammonia, alpha-ketoglutarate, and lactate levels and decrease in ATP and pyruvate levels in the liver (J:784)
• energy metabolism intermediates in both liver and brain are affected by hyperammonemia and sodium benzoate treatment can correct the energy metabolism abnormalities (J:2774)
abnormal enzyme/coenzyme activity ( J:2774 , J:19848 , J:23195 )
(J:2774)
• monoamine oxidase-A activities are decreased by 23% and 16% in cerebellum and brainstem, respectively, while monoamine oxidase-B activities are increased by 22%, 20%, and 22% in cerebellum, brainstem, and cerebral cortex, respectively (J:19848)
• choline acetyltransferase activity is reduced by 63% in cerebral cortex, 53% in thalamus, 36% in striatum, 35% in brainstem and 26% in hippocampus (J:23195)
• acetylcholine esterase activity is reduced by 28% in the thalamus but not other regions (J:23195)
decreased ornithine carbamoyltransferase activity ( J:23195 )
• hepatic ornithine transcarbamylase activity is less than 10% of controls

nervous system
abnormal brain morphology ( J:21306 , J:19848 , J:23195 )
• peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the brain (J:21306)
• monoamine oxidase-A activities are decreased by 23% and 16% in cerebellum and brainstem, respectively, while monoamine oxidase-B activities are increased by 22%, 20%, and 22% in cerebellum, brainstem, and cerebral cortex, respectively (J:19848)
• brain ammonia levels are increased by 77% (J:23195)
abnormal cholinergic neuron morphology ( J:23195 )
• a decrease in choline acetyltransferase-positive neurons is seen throughout the cerebral cortex, septal area, and diagonal band, indicating a loss of forebrain cholinergic neurons

endocrine/exocrine glands
abnormal testis morphology ( J:21306 )
• peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the testis

liver/biliary system
abnormal liver morphology ( J:21306 )
• peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the liver

renal/urinary system
oroticaciduria ( J:16786 )
• mutants exhibit orotic aciduria that can be treated with various inhibitors such as N-(phosphonoacetyl)-L-aspartate and ornithine but mutants are insensitive to cycloheximide and acivicin
abnormal kidney morphology ( J:21306 )
• peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the kidney

reproductive system
abnormal testis morphology ( J:21306 )
• peripheal-type (mitochondrial) benzodiazepine receptors are increased in density in the testis

behavior/neurological
impaired passive avoidance behavior ( J:31237 )
• perform poorly in a passive avoidance test, with 6 of 11 mice failing to learn to avoid an electrified grid compared to 1 of 12 in the controls

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
ornithine carbamoyltransferase deficiency DOID:9271 OMIM:311250
 J:784 , J:19848 , J:23195




Genotype
MGI:3850111
ot17
Allelic
Composition		 Otcspf/Y
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Otcspf mutation (9 available); any Otc mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
decreased body size ( J:23017 )
• seen by 5-7 days after birth

homeostasis/metabolism
abnormal amino acid level ( J:22268 )
• ornithine and citrulline levels are lower in intestinal tissue
abnormal circulating amino acid level ( J:22268 , J:23017 )
• circulating levels of arginine, citrulline and essential amino acids are reduced in suckling mice while plasma glutamine increases after weaning compared to controls (J:22268)
• glutamine concentration is high in the blood while threonine, tyrosine, arginine and citrulline levels are lower than in controls (J:23017)
decreased ornithine level ( J:22268 )
• ornithine levels are lower in intestinal tissue
increased circulating ammonia level ( J:23017 )
• mutants exhibit hyperammonemia (3x higher than in controls) that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine
oroticaciduria ( J:23017 )
• mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine
decreased ornithine carbamoyltransferase activity ( J:22268 , J:23017 )
• reduced activity of ornithine transcarbamylase (Otc) occurs in colon, small intestine, and liver (J:22268)
(J:23017)
abnormal nucleotide metabolism ( J:3633 )
• livers show a 4-fold increase in uridine nucleotides and a 50% decrease in adenosine nucleotides

behavior/neurological
hyperactivity ( J:23017 , J:30359 )
• males are jittery and excited and the total number of entries into an arm of the Y maze is higher than in control males (J:23017)
(J:30359)
abnormal sleep behavior ( J:30359 )
• males with alopecia are somnolent

liver/biliary system
abnormal liver morphology ( J:23017 )
• increase in ammonia and glutamine concentrations in the liver and a decrease in arginine levels

nervous system
abnormal brain morphology ( J:23017 )
• increase in ammonia and glutamine concentrations in the brain and a decrease in arginine levels
• spermidine and N-acetylspermidine concentrations are lower in the brains of mutants than in controls
decreased brain size ( J:48733 )
• 4 week old mutants exhibit a reduced brain size, affecting both the cortex and striatum but showing ventricular enlargement
enlarged brain ventricles ( J:48733 )
• ventricular enlargement is observed in 4 week old mutants
abnormal cerebral cortex pyramidal cell morphology ( J:48733 )
• significant decrease in the complexity of the dendritic arbor and in dendritic terminal spine density of layer V pyramidal cells in the frontoparietal cortex
abnormal dendrite morphology ( J:48733 )
• significant decrease in the complexity of the dendritic arbor and in dendritic terminal spine density of layer V pyramidal cells in the frontoparietal cortex

renal/urinary system
oroticaciduria ( J:23017 )
• mutants develop orotic aciduria that can be corrected by inactivation of ornithine aminotransferase using 5-fluoromethylornithine
orotic acid urinary bladder stones ( J:30359 )
• light brown uroliths (stones) in urinary bladder
• stones consist mostly of orotic acid

integument
sparse hair ( J:23017 )
• seen by 5-7 days after birth

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
ornithine carbamoyltransferase deficiency DOID:9271 OMIM:311250
 J:7789 , J:23017




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11/19/2024
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