Mapre2^tm1.1Dak
Targeted Allele Detail

Summary

• Symbol: Mapre2^tm1.1Dak
• Name: microtubule-associated protein, RP/EB family, member 2; targeted mutation 1.1, David A Keays
• MGI ID: MGI:8325638
• Synonyms: Eb2^Flx
• Gene: Mapre2 Location: Chr18:23885390-24026918 bp, + strand Genetic Position: Chr18, 12.08 cM
• Alliance: Mapre2^tm1.1Dak page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:382375
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A lox2272 site was inserted into intron 3 and a loxP site, a modified copy of exon 4 in reverse orientation and a second lox2272 site and a second loxP site were inserted into intron 4. The modification involves changing glutamine codon 151 (CAG) to a stop codon (TAG) (p.Q151*). The mutation, in the microtubule-binding KH domain of the encoded protein, is the equivalent of the human p.Q152* mutation associated with circumferential skin creases Kunze type (CSC-KT). The FRT site flanked neomycin resistance gene cassette that was inserted into an intron was removed through subsequent Flp-mediated recombination. This allele expresses the wild-type protein and only after Cre-mediated inversion of the modified exon and deletion of the endogenous exon will it express the mutated protein. (J:382375)

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 Mapre2 Mutation: 32 strains or lines available

References

• Original: J:382375 Phillips AW, et al., Loss of EB2 delays mitotic progression in murine and human neural progenitors. Development. 2026 Mar 1;153(5):dev204903
• All: 1 reference(s)