Tbc1d12^em1(IMPC)J
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tbc1d12^em1(IMPC)J
• Name: TBC1D12: TBC1 domain family, member 12; endonuclease-mediated mutation 1, Jackson
• MGI ID: MGI:7411386
• Gene: Tbc1d12 Location: Chr19:38825035-38908103 bp, + strand Genetic Position: Chr19, 33.47 cM
• Alliance: Tbc1d12^em1(IMPC)J page
• IMPC: Tbc1d12 gene page

Mutation origin

• Strain of Origin: C57BL/6NJ
• Project Collection: IMPC

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: This allele was generated at The Jackson Laboratory by electroporating Cas9 protein and 2 guide sequences TCTGACTTATGCAAATGTTT and TTTCACTATGTACAAATTTG, which resulted in a 413 bp deletion beginning at Chromosome 19 position 38,865,432 bp and ending after 38,865,844 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000319961 (exon 2) and 289 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence after residue 247 and early truncation 31 amino acids later. (J:188991)
• Inheritance: Not Specified

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: 2 strains available Cell Lines: 0 lines available
• Carrying any Tbc1d12 Mutation: 58 strains or lines available

References

• Original: J:188991 The Jackson Laboratory, Alleles produced for the KOMP project by The Jackson Laboratory. MGI Direct Data Submission. 2012
• All: 2 reference(s)