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| Nomenclature |
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Symbol:
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Gusbtm1Sly
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Name:
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glucuronidase, beta;
targeted mutation 1, William S Sly
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MGI ID: |
MGI:2451059 |
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Synonyms: |
Gustm(E536A)Sly |
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Gene:
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Gusb
Location:
Chr5:130464881-130478919 bp, - strand
Genetic Position: Chr5,
72.0 cM
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Mutation
origin |
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Germline Transmission:
| Earliest citation of germline transmission:
J:81792
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Parent Cell Line:
| RW-4 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: |
Targeted (knock-in) |
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Mutation: |
Nucleotide substitutions |
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Site directed mutagenesis was used to introduce a glutamic acid to alanine substitution at residue 536 (E536A) of exon 10. This mutation corresponds to E540A, an active-site nucleophile replacement mutation found in human GUS deficiency. (J:81792) |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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| Genotype | Allelic Composition | Genetic Background |
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  hm1
Disease Model |
Gusbtm1Sly/Gusbtm1Sly |
involves: 129X1/SvJ * C57BL/6J |
lethality/postnatal craniofacial growth/size limbs/digits/tail skeleton behavior/neurological cellular homeostasis/metabolism renal/urinary system |
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Disease
models
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| References |
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Original: |
J:81792
Tomatsu S et al.,
"Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis."
Proc Natl Acad Sci U S A 2002 Nov 12;99(23):14982-7
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All: |
2 reference(s)
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