Literature DB >> 1611213

The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.

M H Brilliant1.   

Abstract

The region of mouse Chromosome (Chr) 7 containing the mouse pink-eyed dilution locus, p, is syntenic with human chromosome 15q11-q13, a region associated with three human syndromes, Prader-Willi syndrome (PWS), Angelman syndrome (AS), and a form of hypomelanosis of Ito (HI). Because some mutant alleles of p also share a subset of phenotypes with PWS, AS, and HI, the same gene or genes disrupted by p locus mutations are potentially involved in the phenotypes of PWS, AS, and HI.

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Year:  1992        PMID： 1611213     DOI： 10.1007/bf00355717

Source DB:  PubMed          Journal:  Mamm Genome        ISSN： 0938-8990            Impact factor:   2.957


  45 in total

1.  Coat color genes in rodents and carnivores.

Authors:  C C LITTLE
Journal:  Q Rev Biol       Date:  1958-06       Impact factor: 4.875

2.  Long-range restriction mapping and linkage analysis of the Prader-Willi chromosome region (PWCR).

Authors:  A J Kirkilionis; C A Gregory; J L Hamerton
Journal:  Genomics       Date:  1991-03       Impact factor: 5.736

3.  Pleiotropic Effects of a Mutant at the P Locus from X-Irradiated Mice.

Authors:  W F Hollander; J H Bryan; J W Gowen
Journal:  Genetics       Date:  1960-04       Impact factor: 4.562

4.  Effects on sperm morphology by alleles at the pink-eyed dilution locus in mice.

Authors:  H G Wolfe
Journal:  Genetics       Date:  1977-02       Impact factor: 4.562

Review 5.  Recurrence risk in the Angelman ("happy puppet") syndrome.

Authors:  P J Willems; I Dijkstra; O F Brouwer; G P Smit
Journal:  Am J Med Genet       Date:  1987-08

6.  Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Authors:  W P Robinson; A Bottani; Y G Xie; J Balakrishman; F Binkert; M Mächler; A Prader; A Schinzel
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

7.  Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning.

Authors:  M H Brilliant; Y Gondo; E M Eicher
Journal:  Science       Date:  1991-04-26       Impact factor: 47.728

8.  Duplication of proximal 15q as a cause of Prader-Willi syndrome.

Authors:  A L Pettigrew; S M Gollin; F Greenberg; V M Riccardi; D H Ledbetter
Journal:  Am J Med Genet       Date:  1987-12

9.  Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.

Authors:  R E Magenis; S Toth-Fejel; L J Allen; M Black; M G Brown; S Budden; R Cohen; J M Friedman; D Kalousek; J Zonana
Journal:  Am J Med Genet       Date:  1990-03

10.  Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

Authors:  C A Williams; R T Zori; J W Stone; B A Gray; E S Cantu; H Ostrer
Journal:  Am J Med Genet       Date:  1990-03
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  12 in total

1.  Mapping of PCR-based markers for mouse chromosome 4 on a backcross penetrant for the misty (m) mutation.

Authors:  F T Fiedorek; E S Kay
Journal:  Mamm Genome       Date:  1994-08       Impact factor: 2.957

2.  Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death.

Authors:  N Hagiwara; S E Klewer; R A Samson; D T Erickson; M F Lyon; M H Brilliant
Journal:  Proc Natl Acad Sci U S A       Date:  2000-04-11       Impact factor: 11.205

3.  Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?

Authors:  J E Pellegrino; R E Schnur; R Kline; E H Zackai; N B Spinner
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

4.  A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.

Authors:  A L Lehman; Y Nakatsu; A Ching; R T Bronson; R J Oakey; N Keiper-Hrynko; J N Finger; D Durham-Pierre; D B Horton; J M Newton; M F Lyon; M H Brilliant
Journal:  Proc Natl Acad Sci U S A       Date:  1998-08-04       Impact factor: 11.205

5.  Recommendations for the investigation of animal models of Prader-Willi syndrome.

Authors:  James L Resnick; Robert D Nicholls; Rachel Wevrick
Journal:  Mamm Genome       Date:  2013-04-23       Impact factor: 2.957

6.  Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the beta 3 subunit of the type A gamma-aminobutyric acid receptor.

Authors:  C T Culiat; L Stubbs; R D Nicholls; C S Montgomery; L B Russell; D K Johnson; E M Rinchik
Journal:  Proc Natl Acad Sci U S A       Date:  1993-06-01       Impact factor: 11.205

7.  High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation.

Authors:  Y Gondo; J M Gardner; Y Nakatsu; D Durham-Pierre; S A Deveau; C Kuper; M H Brilliant
Journal:  Proc Natl Acad Sci U S A       Date:  1993-01-01       Impact factor: 11.205

Review 8.  DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Authors:  Dimitre R Simeonov; Xinjing Wang; Chen Wang; Yuri Sergeev; Monika Dolinska; Matthew Bower; Roxanne Fischer; David Winer; Genia Dubrovsky; Joan Z Balog; Marjan Huizing; Rachel Hart; Wadih M Zein; William A Gahl; Brian P Brooks; David R Adams
Journal:  Hum Mutat       Date:  2013-04-30       Impact factor: 4.878

9.  Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in mice.

Authors:  C T Culiat; L J Stubbs; C S Montgomery; L B Russell; E M Rinchik
Journal:  Proc Natl Acad Sci U S A       Date:  1994-03-29       Impact factor: 11.205

10.  Pleiotropy in microdeletion syndromes: neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene.

Authors:  E M Rinchik; D A Carpenter; M A Handel
Journal:  Proc Natl Acad Sci U S A       Date:  1995-07-03       Impact factor: 11.205
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