Mdfic^em2Nlh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mdfic^em2Nlh
• Name: MyoD family inhibitor domain containing; endonuclease-mediated mutation 2, Natasha L Harvey
• MGI ID: MGI:7638755
• Synonyms: Mdfic^M131fs*
• Gene: Mdfic Location: Chr6:15720660-15802168 bp, + strand Genetic Position: Chr6, 6.85 cM
• Alliance: Mdfic^em2Nlh page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology targeting the region between c.379G and c.396C generated deletion alleles. This allele contains a 8 bp deletion this region resulting in a frameshift and premature stop codon. This mimics the common mutation in humans c.391dup (p.Met131Asnfs*3). (J:326462)

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 Mdfic Mutation: 26 strains or lines available

References

• Original: J:326462 Byrne AB, et al., Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Sci Transl Med. 2022 Mar 2;14(634):eabm4869
• All: 1 reference(s)