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| Nomenclature |
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Symbol:
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Hyal1tm1Stn
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Name:
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hyaluronoglucosaminidase 1;
targeted mutation 1, Robert Stern
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MGI ID: |
MGI:2658730 |
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Gene:
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Hyal1
Location:
Chr9:107576927-107581710 bp, + strand
Genetic Position: Chr9,
58.17 cM, cytoband F1-F2
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:136860
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Parent Cell Line:
| JM-1 (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-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A Neo cassette was inserted into exon 2, replacing nucleotides 6487518-6488270 of GenBank NT_039477.6. This replacement resulted in the deletion of nearly half of the coding region, 753 bp, and included a DWE amino acid sequence. Western blot analysis confirmed absence of protein and HA zymography of serum showed no detectable hyaluronidase activity in homozygotes. (J:136860)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
MMRRC states the founder genetic background as 129P2/OlaHsd, however this has not been confirmed.
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| References |
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Original: |
J:136860
Martin DC et al.,
"A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis."
Hum Mol Genet 2008 Jul 1;17(13):1904-15
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All: |
3 reference(s)
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Analysis Tools
