Literature DB >> 7719021

Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD).

E P O'Brien1, E K Novak, L Zhen, K F Manly, D Stephenson, R T Swank.   

Abstract

The recessive muted (mu) and pearl (pe) mutations on Chromosome (Chr) 13 cause pigment dilution and platelet storage pool deficiency (SPD) in mice. In addition, mu causes inner ear abnormalities and pe has symptoms associated with night blindness. Using an interspecific backcross involving the wild-derived Mus musculus musculus (PWK) stock, we have mapped 33 microsatellite markers and four cDNAs relative to mu, pe, and another recessive mutation, satin (sa). Analyzing a total of 528 backcross offspring, we found tight linkage between the pigment loci and several microsatellite markers (D13Mit87, D13Mit88, D13Mit137 with mu; and D13Mit104, D13Mit160, D13Mit161, and D13Mit169 with pe). These markers should aid the eventual molecular identification of these specific SPD genes.

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Year:  1995        PMID: 7719021     DOI: 10.1007/bf00350888

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


  30 in total

1.  Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV.

Authors:  M F Lyon; R Meredith
Journal:  Genet Res       Date:  1969-10       Impact factor: 1.588

Review 2.  A Macintosh program for storage and analysis of experimental genetic mapping data.

Authors:  K F Manly
Journal:  Mamm Genome       Date:  1993       Impact factor: 2.957

3.  Lysosomal dysfunctions associated with mutations at mouse pigment genes.

Authors:  E K Novak; R T Swank
Journal:  Genetics       Date:  1979-05       Impact factor: 4.562

4.  Molecular cloning of microtubule-associated protein 1 (MAP1A) and microtubule-associated protein 5 (MAP1B): identification of distinct genes and their differential expression in developing brain.

Authors:  C C Garner; A Garner; G Huber; C Kozak; A Matus
Journal:  J Neurochem       Date:  1990-07       Impact factor: 5.372

5.  Sandy: a new mouse model for platelet storage pool deficiency.

Authors:  R T Swank; H O Sweet; M T Davisson; M Reddington; E K Novak
Journal:  Genet Res       Date:  1991-08       Impact factor: 1.588

6.  Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci.

Authors:  E K Novak; S W Hui; R T Swank
Journal:  Blood       Date:  1984-03       Impact factor: 22.113

Review 7.  Disorders of platelet function.

Authors:  J S Bennett; M A Kolodziej
Journal:  Dis Mon       Date:  1992-08       Impact factor: 3.800

8.  Genetic mapping of the integrin alpha 1 gene (Vla1) to mouse chromosome 13.

Authors:  P Douville; M F Seldin; S Carbonetto
Journal:  Genomics       Date:  1992-10       Impact factor: 5.736

9.  Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha.

Authors:  R T Swank; M Reddington; O Howlett; E K Novak
Journal:  Blood       Date:  1991-10-15       Impact factor: 22.113

10.  Characterization of abnormalities in the visual system of the mutant mouse pearl.

Authors:  G W Balkema; L H Pinto; U C Dräger; J W Vanable
Journal:  J Neurosci       Date:  1981-11       Impact factor: 6.167

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  6 in total

1.  High-resolution genetic mapping of the gunmetal gene which regulates platelet production.

Authors:  E P O'Brien; L Zhen; S Y Jiang; E K Novak; R T Swank
Journal:  Mamm Genome       Date:  1996-03       Impact factor: 2.957

2.  The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.

Authors:  Qing Zhang; Wei Li; Edward K Novak; Amna Karim; Vishnu S Mishra; Stephen F Kingsmore; Bruce A Roe; Tamio Suzuki; Richard T Swank
Journal:  Hum Mol Genet       Date:  2002-03-15       Impact factor: 6.150

3.  rim2 (recombination-induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak syndrome (HPS): genetic and physical mapping.

Authors:  T Sagai; T Koide; M Endo; K Tanoue; Y Kikkawa; H Yonekawa; S Ishiguro; M Tamai; Y Matsuda; S Wakana; T Shiroishi
Journal:  Mamm Genome       Date:  1998-01       Impact factor: 2.957

4.  The gene encoding the thrombin receptor (Cf2r) maps to mouse chromosome 13.

Authors:  C Poirier; E P O'Brien; A L Bueno Brunialti; J Chambard; R T Swank; J Guénet
Journal:  Mamm Genome       Date:  1996-04       Impact factor: 2.957

Review 5.  Positron emission tomography in multiple sclerosis - straight to the target.

Authors:  Benedetta Bodini; Matteo Tonietto; Laura Airas; Bruno Stankoff
Journal:  Nat Rev Neurol       Date:  2021-09-20       Impact factor: 42.937

6.  Molecular markers near the mouse brachymorphic (bm) gene, which affects connective tissues and bleeding time.

Authors:  M E Rusiniak; E P O'Brien; E K Novak; S M Barone; M P McGarry; M Reddington; R T Swank
Journal:  Mamm Genome       Date:  1996-02       Impact factor: 2.957

  6 in total

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