Tmprss9^tm1.3Hzo
Targeted Allele Detail

Summary

• Symbol: Tmprss9^tm1.3Hzo
• Name: transmembrane protease, serine 9; targeted mutation 1.3, Huda Y Zoghbi
• MGI ID: MGI:6393876
• Synonyms: Tmprss9^-, Tmprss9^tm1.3Arte
• Gene: Tmprss9 Location: Chr10:80707682-80735326 bp, + strand Genetic Position: Chr10, 39.72 cM
• Alliance: Tmprss9^tm1.3Hzo page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:284914
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A gene trap cassette containing an FRT site, attB site, Puromycin resistance gene, attP site, human growth hormone poly(A) signal sequence, and FRT site was inserted between exon 1 and exon 2. In addition, exon 2 was flanked by loxP sites. The Puromycin resistance gene was removed via PhiC31-mediated recombination. The human growth hormone poly(A) signal sequence was removed via Flp-mediated recombination. Cre-mediated recombination deleted exon 2. Deletion of exon 2 leads to a frameshift and premature stop codon in exon 3. (J:284914)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Tmprss9 Mutation: 39 strains or lines available

References

• Original: J:284914 Chen CA, et al., Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet. 2020 Feb 1;29(3):459-470
• All: 1 reference(s)