Allele Name	patch
Allele Type	Spontaneous
Allele Synonym(s)	Pdgfr^Ph
Gene Symbol and Name	Ph, patch deletion region
Gene Synonym(s)
Strain of Origin	C57BL/Gr
Chromosome	5
General Note	Repulsion double heterozygotes of Ph and the allele Kit^W-ct at the closely linked Kit locus (Ph +/+ Kit^W-ct) are more anemic than Kit heterozygotes (+ Kit^W-ct/+ +) alone, have significantly raised leucocyte counts, and are unduly sensitive to whole body X-irradiation, indicating that the Ph locus exerts some control over hematopoiesis (J:7216). Studies of Ph homozygous embryos suggest that Ph protein is required for normal development of non-neuronal neural crest-derived structures (J:1107) and visceral endoderm and mesoderm derivatives (J:1108).
Molecular Note	A deletion region including the Pdgfra gene. Precise breakpoints have not been mapped, but does not extend into the coding sequences of the adjacent Kit gene. However, expression of Kit is altered in these mutants.

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Genotype: Ph related

Cancer Research
- Growth Factors/Receptors/Cytokines
Dermatology Research
- Color and White Spotting Defects
Developmental Biology Research
- Craniofacial and Palate Defects
- Embryonic Lethality (Homozygous)
- Neural Crest Defects
Immunology, Inflammation and Autoimmunity Research
- Growth Factors/Receptors/Cytokines

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Ph/Ph⁺
involves: C57BL/Gr

pigmentation phenotype

belly spot

variable body spotting
- heterozygotes have a large white patch of variable shape and size at the posterior extremity of the trunk, largely on the ventral side

integument phenotype

belly spot

variable body spotting
- heterozygotes have a large white patch of variable shape and size at the posterior extremity of the trunk, largely on the ventral side

References

Additional References

Duttlinger R; Manova K; Berrozpe G; Chu TY; DeLeon V; Timokhina I; Chaganti RS; Zelenetz AD; Bachvarova RF; Besmer P. 1995. The Wsh and Ph mutations affect the c-kit expression profile: c-kit misexpression in embryogenesis impairs melanogenesis in Wsh and Ph mutant mice. Proc Natl Acad Sci U S A 92(9):3754-8. PubMed: 7537375 MGI: J:25082
Morrison-Graham K; Schatteman GC; Bork T; Bowen-Pope DF; Weston JA. 1992. A PDGF receptor mutation in the mouse (Patch) perturbs the development of a non-neuronal subset of neural crest-derived cells. Development 115(1):133-42. PubMed: 1638976 MGI: J:1107
Orr-Urtreger A; Bedford MT; Do MS; Eisenbach L; Lonai P. 1992. Developmental expression of the alpha receptor for platelet-derived growth factor, which is deleted in the embryonic lethal Patch mutation. Development 115(1):289-303. PubMed: 1322271 MGI: J:1104
Schatteman GC; Morrison-Graham K; van Koppen A; Weston JA; Bowen-Pope DF. 1992. Regulation and role of PDGF receptor alpha-subunit expression during embryogenesis. Development 115(1):123-31. PubMed: 1322269 MGI: J:1108
Stephenson DA; Mercola M; Anderson E; Wang CY; Stiles CD; Bowen-Pope DF; Chapman VM. 1991. Platelet-derived growth factor receptor alpha-subunit gene (Pdgfra) is deleted in the mouse patch (Ph) mutation. Proc Natl Acad Sci U S A 88(1):6-10. PubMed: 1846043 MGI: J:10920

Additional - Ph related

Asher JH Jr; Friedman TB. 1990. Mouse and hamster mutants as models for Waardenburg syndromes in humans. J Med Genet 27(10):618-26. PubMed: 2246770 MGI: J:200892
Berrozpe G; Timokhina I; Yukl S; Tajima Y; Ono M; Zelenetz AD; Besmer P. 1999. The W(sh), W(57), and Ph Kit expression mutations define tissue-specific control elements located between -23 and -154 kb upstream of Kit. Blood 94(8):2658-66. PubMed: 10515869 MGI: J:109894
Brunkow ME; Nagle DL; Bernstein A; Bucan M. 1995. A 1.8-Mb YAC contig spanning three members of the receptor tyrosine kinase gene family (Pdgfra, Kit, and Flk1) on mouse chromosome 5. Genomics 25(2):421-32. PubMed: 7540588 MGI: J:23149
Center EM; Marcus NM; Wilson DB. 1988. Abnormal development of the notochord and perinotochordal sheath in duplicitas posterior, patch and tail-short mice. Histol Histopathol 3(4):405-12. PubMed: 2980249 MGI: J:803
Deol MS. 1970. The relationship between abnormalities of pigmentation and of the inner ear. Proc R Soc Lond B Biol Sci 175(39):201-17. PubMed: 4392283 MGI: J:125080
Gruneberg H. 1971. Exocrine glands and the Chievitz organ of some mouse mutants. J Embryol Exp Morphol 25(2):247-61. PubMed: 5088022 MGI: J:140462
Gruneberg H; Truslove GM. 1960. Two closely linked genes in the mouse Genet Res 1:69-90. MGI: J:99
Helwig U; Imai K; Schmahl W; Thomas BE; Varnum DS; Nadeau JH; Balling R. 1995. Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice. Nat Genet 11(1):60-3. PubMed: 7550316 MGI: J:28396
Itoi M; Tsukamoto N; Yoshida H; Amagai T. 2007. Mesenchymal cells are required for functional development of thymic epithelial cells. Int Immunol 19(8):953-64. PubMed: 17625108 MGI: J:124645
Johnson DR. 1976. The interfrontal bone and mutant genes in the mouse. J Anat 121(3):507-13. PubMed: 1018005 MGI: J:5776
Jordan SA; Jackson IJ. 2000. A late wave of melanoblast differentiation and rostrocaudal migration revealed in patch and rump-white embryos. Mech Dev 92(2):135-43. PubMed: 10727853 MGI: J:61455
King DP; Vitaterna MH; Chang AM; Dove WF; Pinto LH; Turek FW ; Takahashi JS. 1997. The mouse Clock mutation behaves as an antimorph and maps within the W19H deletion, distal of Kit. Genetics 146(3):1049-60. PubMed: 9215907 MGI: J:41383
Lamoreux ML. 1999. Strain-specific white-spotting patterns in laboratory mice Pigment Cell Res 12(6):383-90. PubMed: 10614578 MGI: J:106083
Li L; Schatteman GC; Oppenheim RW; Lei M; Bowen-Pope DF; Houenou LJ. 1996. Altered development of spinal cord in the mouse mutant (Patch) lacking the PDGF receptor alpha-subunit gene. Brain Res Dev Brain Res 96(1-2):204-9. PubMed: 8922682 MGI: J:36710
Loutit JF; Cattanach BM. 1983. Haematopoietic role for Patch (Ph) revealed by new W mutant (Wct) in mice. Genet Res 42(1):29-39. PubMed: 6628990 MGI: J:7216
Morrison-Graham K; Schatteman GC; Bork T; Bowen-Pope DF; Weston JA. 1992. A PDGF receptor mutation in the mouse (Patch) perturbs the development of a non-neuronal subset of neural crest-derived cells. Development 115(1):133-42. PubMed: 1638976 MGI: J:1107
Nadeau JH. 2001. Modifier genes in mice and humans. Nat Rev Genet 2(3):165-74. PubMed: 11256068 MGI: J:88013
Ogura Y; Takakura N; Yoshida H; Nishikawa SI. 1998. Essential role of platelet-derived growth factor receptor alpha in the development of the intraplacental yolk sac/sinus of Duval in mouse placenta. Biol Reprod 58(1):65-72. PubMed: 9472924 MGI: J:44830
Orr-Urtreger A; Bedford MT; Do MS; Eisenbach L; Lonai P. 1992. Developmental expression of the alpha receptor for platelet-derived growth factor, which is deleted in the embryonic lethal Patch mutation. Development 115(1):289-303. PubMed: 1322271 MGI: J:1104
Payne J; Shibasaki F; Mercola M. 1997. Spina bifida occulta in homozygous Patch mouse embryos. Dev Dyn 209(1):105-16. PubMed: 9142500 MGI: J:40047
Robbins JR; McGuire PG; Wehrle-Haller B; Rogers SL. 1999. Diminished matrix metalloproteinase 2 (MMP-2) in ectomesenchyme-derived tissues of the Patch mutant mouse: regulation of MMP-2 by PDGF and effects on mesenchymal cell migration. Dev Biol 212(2):255-63. PubMed: 10433819 MGI: J:56936
Schatteman GC; Morrison-Graham K; van Koppen A; Weston JA; Bowen-Pope DF. 1992. Regulation and role of PDGF receptor alpha-subunit expression during embryogenesis. Development 115(1):123-31. PubMed: 1322269 MGI: J:1108
Schatteman GC; Motley ST; Effmann EL; Bowen-Pope DF. 1995. Platelet-derived growth factor receptor alpha subunit deleted Patch mouse exhibits severe cardiovascular dysmorphogenesis. Teratology 51(6):351-66. PubMed: 7502236 MGI: J:28443
Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. MGI: J:78801
Smith EA; Seldin MF; Martinez L; Watson ML; Choudhury GG; Lalley PA; Pierce J; Aaronson S; Barker J; Naylor SL; Sakaguchi AY. 1991. Mouse platelet-derived growth factor receptor alpha gene is deleted in W19H and patch mutations on chromosome 5. Proc Natl Acad Sci U S A 88(11):4811-5. PubMed: 1647018 MGI: J:11255
Stephenson DA; Mercola M; Anderson E; Wang CY; Stiles CD; Bowen-Pope DF; Chapman VM. 1991. Platelet-derived growth factor receptor alpha-subunit gene (Pdgfra) is deleted in the mouse patch (Ph) mutation. Proc Natl Acad Sci U S A 88(1):6-10. PubMed: 1846043 MGI: J:10920
Sun T; Jayatilake D; Afink GB; Ataliotis P; Nister M; Richardson WD; Smith HK. 2000. A human YAC transgene rescues craniofacial and neural tube development in PDGFRalpha knockout mice and uncovers a role for PDGFRalpha in prenatal lung growth. Development 127(21):4519-29. PubMed: 11023856 MGI: J:64680
Wehrle-Haller B; Morrison-Graham K; Weston JA. 1996. Ectopic c-kit expression affects the fate of melanocyte precursors in Patch mutant embryos. Dev Biol 177(2):463-74. PubMed: 8806824 MGI: J:34586
Zhao S; Overbeek PA. 1999. Tyrosinase-related protein 2 promoter targets transgene expression to ocular and neural crest-derived tissues. Dev Biol 216(1):154-63. PubMed: 10588869 MGI: J:134392

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Ph

Allele Symbol: Ph