Hmga2^em1Hokl
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hmga2^em1Hokl
• Name: high mobility group AT-hook 2; endonuclease-mediated mutation 1, Sabine Hombach-Klonisch
• MGI ID: MGI:8282794
• Synonyms: Hmga2^K56E
• Gene: Hmga2 Location: Chr10:120197180-120312374 bp, - strand Genetic Position: Chr10, 67.94 cM
• Alliance: Hmga2^em1Hokl page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated an A to G change at position 166 (c.166A>G) resulting in a lysine to glutamate substitution at amino acid 56 (p.Lys56Glu). In addition, c.156C>A and c.180C>T were introduced to destroy sites for a second backup guide and the PAM site, respectively. This amino acid substitution is localized to the linker 2 region between AT-hook 1 and AT-hook2. The p.K56E variant was identified in a patient with suspected Silver-Russell syndrome. (J:348065)

Disease models

Expression

In Structures Affected by this Mutation:

2 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:348065 Maharaj AV, et al., Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome. JCI Insight. 2024 Feb 20;9(6)
• All: 1 reference(s)