Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol:	Hyal1tm1Stn
Name:	hyaluronoglucosaminidase 1; targeted mutation 1, Robert Stern
MGI ID:	MGI:2658730
Gene:	Hyal1  Location: Chr9:107454149-107458898 bp, + strand  Genetic Position: Chr9, 58.17 cM, cytoband F1-F2
Alliance:	Hyal1tm1Stn page

Germline Transmission:	Earliest citation of germline transmission: J:136860
Parent Cell Line:	JM-1 (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Hyal1 Mutation:	30 strains or lines available

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
All:	9 reference(s)