Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis

Proceedings of the National Academy of Sciences of the United States of America

Volumn 99, Issue 23, 2002, Pages 14982-14987

  Tomatsu, Shunji ^a,b   Orii, Koji O ^a,b   Vogler, Carole ^a   Grubb, Jeffrey H ^a   Snella, Elizabeth M ^a   Gutierrez, Monica A ^a   Dieter, Tatiana ^a   Sukegawa, Kazuko ^b   Orii, Tadao ^b   Kondo, Naomi ^b   Sly, William S ^a  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GIFU UNIVERSITY   (Japan)

Author keywords

Cre loxP; Knock in mice; Point mutation

Indexed keywords

BETA GLUCURONIDASE; GLYCOSAMINOGLYCAN;

ANIMAL CELL; ARTICLE; CHIMERA; CONTROLLED STUDY; DISEASE SEVERITY; DNA LIBRARY; DNA PROBE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME REPLACEMENT; FACE DYSMORPHIA; GENE MUTATION; GENOTYPE; GERM LINE; HETEROZYGOSITY; LYSOSOME STORAGE DISEASE; MISSENSE MUTATION; MOUSE; MUCOPOLYSACCHARIDOSIS TYPE 7; MUTAGENESIS; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA TRANSCRIPTION; AMINO ACID SUBSTITUTION; ANIMAL; DISEASE MODEL; ENZYMOLOGY; GENE VECTOR; GENETICS; HUMAN; LIVER; LYSOSOME; PATHOLOGY; SITE DIRECTED MUTAGENESIS;

ANIMALIA; MURINAE;

AMINO ACID SUBSTITUTION; ANIMALS; DISEASE MODELS, ANIMAL; GENETIC VECTORS; GLUCURONIDASE; HUMANS; LIVER; LYSOSOMES; MICE; MUCOPOLYSACCHARIDOSIS VII; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PHENOTYPE;

EID: 0037069189     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.232570999     Document Type: Article

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