Literature DB >> 8812504

Isolation and chromosomal mapping of a mouse homolog of the Batten disease gene CLN3.

R L Lee1, K R Johnson, T J Lerner.   

Abstract

We describe the isolation and chromosomal mapping of a mouse homolog of the Batten disease gene, CLN3. Like its human counterpart, the mouse cDNA contains an open reading frame of 1314 bp encoding a predicted protein product of 438 amino acids. The mouse and human coding regions are 82 and 85% identical at the nucleic acid and amino acid levels, respectively. The mouse gene maps to distal Chromosome 7, in a region containing genes whose homologs are on human chromosome 16p12, where CLN3 maps. Isolation of a mouse CLN3 homolog will facilitate the creation of a mouse model of Batten disease.

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Year:  1996        PMID: 8812504     DOI: 10.1006/geno.1996.0410

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  7 in total

1.  Spectrum of mutations in the Batten disease gene, CLN3.

Authors:  P B Munroe; H M Mitchison; A M O'Rawe; J W Anderson; R M Boustany; T J Lerner; P E Taschner; N de Vos; M H Breuning; R M Gardiner; S E Mole
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

2.  A first-generation whole genome-radiation hybrid map spanning the mouse genome.

Authors:  L C McCarthy; J Terrett; M E Davis; C J Knights; A L Smith; R Critcher; K Schmitt; J Hudson; N K Spurr; P N Goodfellow
Journal:  Genome Res       Date:  1997-12       Impact factor: 9.043

3.  Phenotypic reversal of the btn1 defects in yeast by chloroquine: a yeast model for Batten disease.

Authors:  D A Pearce; C J Carr; B Das; F Sherman
Journal:  Proc Natl Acad Sci U S A       Date:  1999-09-28       Impact factor: 11.205

4.  The yeast model for batten disease: mutations in BTN1, BTN2, and HSP30 alter pH homeostasis.

Authors:  S Chattopadhyay; N E Muzaffar; F Sherman; D A Pearce
Journal:  J Bacteriol       Date:  2000-11       Impact factor: 3.490

5.  A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses.

Authors:  Reza M Salek; Michael R Pears; Jonathan D Cooper; Hannah M Mitchison; David A Pearce; Russell J Mortishire-Smith; Julian L Griffin
Journal:  J Biomol NMR       Date:  2011-04-03       Impact factor: 2.835

6.  A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease.

Authors:  Yoojin Kim; Denia Ramirez-Montealegre; David A Pearce
Journal:  Proc Natl Acad Sci U S A       Date:  2003-12-05       Impact factor: 11.205

Review 7.  Juvenile neuronal ceroid lipofuscinosis (JNCL) and the eye.

Authors:  Sara Bozorg; Denia Ramirez-Montealegre; Mina Chung; David A Pearce
Journal:  Surv Ophthalmol       Date:  2009 Jul-Aug       Impact factor: 6.048

  7 in total

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