Overview

Also Known As:sparse fur Jackson

These mice carry a spontaneous mutation at the Otc locus characterized by coat and skin abnormalities. With higher residual enzyme activity these mice have normal plasma ammonia and plasma orotic acid at baseline and mild amino acid perturbations.

Genetic overview

Genetic Background	Generation

Otc^spf-J

Allele Type	Gene Symbol	Gene Name
Spontaneous (Hypomorph)	Otc	ornithine transcarbamylase

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Research Applications

Metabolism Research
Dermatology Research
Mouse/Human Gene Homologs

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

The transversion in exon 3 of ornithine transcarbamylase in Otc^spf-J mice leads to normal levels of mRNA with low levels of mature protein. With higher residual enzyme activity, Otc^spf-J mice were found to have normal plasma ammonia and orotate. Baseline plasma amino acid profiles were consistent with mild OTCD: elevated glutamine, and lower citrulline and arginine. In contrast to wild type, Otc^spf-J mice displayed baseline elevations in cerebral amino acids with depletion following immune challenge with polyinosinic:polycytidylic acid. These mice may be suitable for mechanistic studies of mild OTCD and the exploration of cerebral pathophysiology during acute decompensation that characterizes proximal urea cycle dysfunction in humans.

Genetics

Otc^spf-J

Allele Symbol: Otc^spf-J

Allele Name	sparse fur Jackson
Allele Type	Spontaneous (Hypomorph)
Allele Synonym(s)
Gene Symbol and Name	Otc, ornithine transcarbamylase
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	X
Molecular Note	This allele was identified from the results of a noncomplementation test with Otc^spf. A missense mutation was identified, with a c.240A>T transversion in exon 3, leading to a lysine to asparagine substitution (p.K80N). The K80 residue is located outside the carbamoyl phosphate and ornithine binding regions. qRT-PCR confirmed similar levels of hepatic mRNA in heterozygous females and hemizygous males as in wild-type mice, while Western blot showed drastically reduced hepatic protein levels. Otc enzyme activity is 10-12% of wild-type levels.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

ornithine carbamoyltransferase deficiency

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Otc^spf-J related

Metabolism Research
Dermatology Research
- Skin and Hair Texture Defects
Mouse/Human Gene Homologs
- ornithine transcarbamylase deficiency

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Otc^spf-J/Y
C57BL/6J-Otc/J

growth/size/body region phenotype

decreased body size
- mice are smaller at 4 weeks of age but by 12 weeks of age, they are similar in size to wild-type mice

integument phenotype

abnormal coat/hair pigmentation
- fur is grey at 4 weeks of age but by 12 weeks, coat color is similar to wild-type mice

sparse hair
- coat is patchy at 4 weeks of age but by 12 weeks of age, coat density becomes similar to wild-type mice
- compared with heterozygous females and normal littermates

pigmentation phenotype

abnormal coat/hair pigmentation
- fur is grey at 4 weeks of age but by 12 weeks, coat color is similar to wild-type mice

homeostasis/metabolism phenotype

abnormal amino acid level
- , and arginine compared to wild-type mice
- following polyinosinic:polycytidylic acid (poly I:C) challenge to simulate viral infection, mice show a general decrease in many cerebral amino acids including valine, serine, phenylalanine, lysine, leucine, isoleucine, histidine, glutamine, glutamic acid, and arginine compared to wild-type mice
- in the cerebrum, 12 of 20 amino acids measured are increased, including glycine and glutamine, indicating altered cerebral amino acid metabolism or transport
- in the liver, aspartate, and glutamic acid are decreased, while ornithine is mildly decreased

abnormal blood homeostasis
- mice maintained on a high protein diet for 2 weeks exhibit a 2.5-3x increase in plasma orotate levels, but not plasma ammonia levels
- Normal - mice on a regular chow diet show normal levels of plasma ammonia and plasma orotate
- urea cycle intermediates ornithine, citrulline, and arginine are lower in the blood, indicating a proximal urea cycle defect

abnormal circulating amino acid level
- branched chain amino acids valine, leucine, and isoleucine are decreased in the blood
- following polyinosinic:polycytidylic acid (poly I:C) challenge to simulate viral infection, mice show a greater increase in glutamic acid levels in the blood over baseline
- glutamate is mildly increased in the blood

Genotype: Otc^spf-J/Otc⁺
C57BL/6J-Otc/J

integument phenotype

focal hair loss
- due to X-inactivation

References

Additional - Otc^spf-J related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

Comments: Hemizygous males may be too small to wean at 3 weeks of age and may need to be weaned at 4 weeks instead.
- Additional Breeding and Husbandry Support
Citation
When using the sparse fur Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #001672 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	X linked - Heterozygous females and Wild-type males Otc<spf-J

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Also Known As:sparse fur Jackson

Genetic overview

Research Applications

Base Price

Detailed Description

Otcspf-J

Allele Symbol: Otcspf-J

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Otcspf-J related

Mammalian Phenotype Terms by Genotype

Genotype: Otcspf-J/YC57BL/6J-Otc/J

growth/size/body region phenotype

integument phenotype

pigmentation phenotype

homeostasis/metabolism phenotype

Genotype: Otcspf-J/Otc+C57BL/6J-Otc/J

integument phenotype

References

Additional - Otcspf-J related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Otc^spf-J

Allele Symbol: Otc^spf-J

Genotype: Otc^spf-J related

Genotype: Otc^spf-J/Y
C57BL/6J-Otc/J

Genotype: Otc^spf-J/Otc⁺
C57BL/6J-Otc/J

Additional - Otc^spf-J related