Hmga2^em1Sson
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hmga2^em1Sson
• Name: high mobility group AT-hook 2; endonuclease-mediated mutation 1, Leif Andersson
• MGI ID: MGI:7294377
• Synonyms: Hmga2^-, Hmga2^tamu-ko
• Gene: Hmga2 Location: Chr10:120197180-120312374 bp, - strand Genetic Position: Chr10, 67.94 cM
• Alliance: Hmga2^em1Sson page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR/Cas9 technology introduced a seven-nucleotide insertion in exon 1, introducing a premature stop codon at codon 36. The insertion unexpectedly created a new splice donor site which resulted in a deletion of 14 nucleotides in the transcript and a frameshift after codon 35 resulting in an alternate open reading frame that can potentially be translated into a protein 72 amino acids longer than the wild-type protein. Western blot analysis with an N-terminal region antibody showed the expression of this larger protein in homozygotes while a C-terminal antibody confirmed the absence of the normal wild-type protein. (J:324153)

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 Hmga2 Mutation: 12 strains or lines available

References

• Original: J:324153 Lee MO, et al., Hmga2 deficiency is associated with allometric growth retardation, infertility, and behavioral abnormalities in mice. G3 (Bethesda). 2022 Feb 4;12(2)
• All: 1 reference(s)