Mir140^em1Tkob
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mir140^em1Tkob
• Name: microRNA 140; endonuclease-mediated mutation 1, Tatsuya Kobayashi
• MGI ID: MGI:6405410
• Synonyms: miR-140^G
• Gene: Mir140 Location: Chr8:108277876-108277945 bp, + strand Genetic Position: Chr8, 54.33 cM
• Alliance: Mir140^em1Tkob page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting induced a A to G single nucleotide substitution (corresponding to the mutation observed in human patients with skeletal dysplasia) at the 70th nucleotide. (J:286036)

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Mir140 Mutation: 1 strain or line available

References

• Original: J:286036 Grigelioniene G, et al., Gain-of-function mutation of microRNA-140 in human skeletal dysplasia. Nat Med. 2019 Apr;25(4):583-590
• All: 1 reference(s)