Med17^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Med17^tm1.1Ics
• Name: mediator complex subunit 17; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:7616476
• Synonyms: Med17^L369P
• Gene: Med17 Location: Chr9:15171647-15191227 bp, - strand Genetic Position: Chr9, 4.74 cM
• Alliance: Med17^tm1.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342743
• Parent Cell Line: BD10 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Leucine codon 369 (CTG) in exon 7 was changed to proline (CCG) (c.1106T>C, p.L369P). A loxP site, a neomycin resistance gene cassette, an FRT site flanked auto-excision protamine-cre cassette and a second loxP site were inserted into intron 7. The mutation is the equivalent of the human p.L371P mutation associated with postnatal progressive microcephaly with seizures and brain atrophy. (J:342743)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Med17 Mutation: 28 strains or lines available

References

• Original: J:342743 Meziane H, et al., Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines. 2022 Dec 6;10(12)
• All: 1 reference(s)