Description

Strain Information

Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse

Appearance
agouti
Related Genotype: A/A

Description
This strain has delayed disjunction of the X and Y chromosomes. X^Paf/X females have patchy or striped coats; X^Paf/Y males have a dark, shiny coat until hairloss begins and between 12 and 30 days of age the coat loses underfur and becomes sparse and then bristly; X^Paf/O females initially have a dark shiny coat which looks like that of X^Paf/Y males but then they lose less fur than the X^Paf/Y male and appear more striped or patched than heterozygous females, but do not become bristly or have as sparse a coat as hemizygous males.

Development
Paf arose at TJL in the bouncy-3J subline of C3H/HeSnJ and was first recognized as patches of fur missing in the coat of a female. This female was bred with a wildtype brother and 7 females and 5 males out of 37 phenotyped offspring had abnormal coats with the male phenotype being more severe. This was maintained by closed colony breeding, primarily using sibling pairs and in 1991 heterozygous females were bred with C3H/HeSnJ males to generate embryos for cryopreservation.

Control Information

	Control
	000661 C3H/HeSnJ
Considerations for Choosing Controls

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Paf/Paf

        C3H/HeSn

• skin/coat/nails phenotype
• abnormal coat appearance (MGI Ref ID J:10459)
  • coat of homozygous females is darker and shinier than heterozgous females
• abnormal hair growth (MGI Ref ID J:10459)
  • homozygous females lose less juvenile hair than hemizygous males

Paf/Paf⁺

        C3H/HeSn

• skin/coat/nails phenotype
• abnormal coat appearance (MGI Ref ID J:10459)
• abnormal hair growth (MGI Ref ID J:10459)
  • heterozygous females have a variable striped or patchy coat, consistent with random inactivation
  • coat appears to be striped black however dark color is the black base of hairs revealed by adjacent hair loss

Paf/Y

        C3H/HeSn

• skin/coat/nails phenotype
• abnormal coat appearance (MGI Ref ID J:10459)
  • at 10 days the coat is darker than normal and shiny
• abnormal hair growth (MGI Ref ID J:10459)
  • between 12 and 30 days of age hair loss is evident with progressive loss until only long guard hairs; no underfur
  • guard hairs later become bristly, coat sparse with areas of hairlessness around the eyes, skin clearly visible through fur
• reproductive system phenotype
• abnormal gametogenesis (MGI Ref ID J:10459)
• abnormal meiosis (MGI Ref ID J:10459)
• meiotic nondisjunction during M1 phase (MGI Ref ID J:10459)

View Research Applications

Research Applications

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

Paf related

Dermatology Research
Skin and Hair Texture Defects

Reproductive Biology Research
Meiotic Nondisjunction Studies

Research Tools
Genetics Research (Meiotic Nondisjunction Studies)

Genes & Alleles

Gene & Allele Information

Allele Symbol		Paf
Allele Name		patchy fur
Allele Type		Spontaneous
Common Name(s)		In(XPAR)Paf;
Strain of Origin		C3H/HeSn-bc<3J>
Molecular Note		This mutation comprises an inversion of an X chromosome segment spanning the pseudoautosomal region (PAR) with breakpoints distal to Amel and proximal to the PAR marker DXYHgu1. As a consequence X-Y nondisjunction occurs, resulting in XO and XXY progeny. [MGI Ref ID J:10459]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

Cormier TA; Prakash SK; Magner DB; Zoghbi HY; Van den Veyver IB. 2001. Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. Mamm Genome 12(10):796-8. [PubMed: 11668396]  [MGI Ref ID J:85267]

Johnson KR; Lane PW; Cook SA; Harris BS; Ward-Bailey PF; Bronson RT; Lyons BL; Shultz LD; Davisson MT. 2003. Curly bare (cub), a new mouse mutation on chromosome 11 causing skin and hair abnormalities, and a modifier gene (mcub) on chromosome 5. Genomics 81(1):6-14. [PubMed: 12573256]  [MGI Ref ID J:82006]

Paf related

Alton M; Lau MP; Villemure M; Taketo T. 2008. The behavior of the X- and Y-chromosomes in the oocyte during meiotic prophase in the B6.Y(TIR)sex-reversed mouse ovary. Reproduction 135(2):241-52. [PubMed: 18239052]  [MGI Ref ID J:133516]

Burgoyne PS; Evans EP. 2000. A high frequency of XO offspring from X(Paf)Y* male mice: evidence that the Paf mutation involves an inversion spanning the X PAR boundary. Cytogenet Cell Genet 91(1-4):57-61. [PubMed: 11173831]  [MGI Ref ID J:67199]

Burgoyne PS; Ojarikre OA; Turner JM. 2002. Evidence that postnatal growth retardation in XO mice is due to haploinsufficiency for a non-PAR X gene. Cytogenet Genome Res 99(1-4):252-6. [PubMed: 12900572]  [MGI Ref ID J:115690]

Cormier TA; Prakash SK; Magner DB; Zoghbi HY; Van den Veyver IB. 2001. Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. Mamm Genome 12(10):796-8. [PubMed: 11668396]  [MGI Ref ID J:85267]

Isles AR; Davies W; Burrmann D; Burgoyne PS; Wilkinson LS. 2004. Effects on fear reactivity in XO mice are due to haploinsufficiency of a non-PAR X gene: implications for emotional function in Turner's syndrome. Hum Mol Genet 13(17):1849-55. [PubMed: 15238507]  [MGI Ref ID J:118893]

Lane PW; Davisson MT. 1990. Patchy fur (Paf), a semidominant X-linked gene associated with a high level of X-Y nondisjunction in male mice. J Hered 81(1):43-50. [PubMed: 2332613]  [MGI Ref ID J:10459]

Pelka GJ; Watson CM; Radziewic T; Hayward M; Lahooti H; Christodoulou J; Tam PP. 2006. Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice. Brain 129(Pt 4):887-98. [PubMed: 16467389]  [MGI Ref ID J:137513]

Raefski AS; Carone BR; Kaur A; Krueger W; O'Neill MJ. 2007. Wnt pathway anomalies in developing amygdalae of Turner syndrome-like mice. J Mol Neurosci 32(2):111-9. [PubMed: 17873295]  [MGI Ref ID J:128588]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	000661 C3H/HeSnJ
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms of Use

The Jackson Laboratory's Genotype Promise

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.

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Ordering and Purchasing Information

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Contact Information
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Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

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Acceptance of delivery of MICE, products or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on The Jackson Laboratory, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, products services by The Jackson Laboratory.