Hyal1^tm1Stn
Targeted Allele Detail

Summary

• Symbol: Hyal1^tm1Stn
• 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: Hyal1^tm1Stn page

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• 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

Notes

MMRRC states the founder genetic background as 129P2/OlaHsd, however this has not been confirmed.

References

• 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: 13 reference(s)