Alas2^em1Mdf
Endonuclease-mediated Allele Detail

Summary

• Symbol: Alas2^em1Mdf
• Name: aminolevulinic acid synthase 2, erythroid; endonuclease-mediated mutation 1, Mark D Fleming
• MGI ID: MGI:7780116
• Synonyms: Alas2 R170H
• Gene: Alas2 Location: ChrX:149330443-149353614 bp, + strand Genetic Position: ChrX, 68.46 cM
• Alliance: Alas2^em1Mdf page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: A p.R170H missense mutation (c.509G>A) was introduced to exon 5 of the X-linked mouse Alas2 gene using homology directed repair (HDR) CRISPR/cas9 methodologies in C57BL/6NCrl blastocysts (sgRNA: GAAGTGTTGGGCAAAGGGGT). The PAM site was also changed during targeting with a linked c.522C>A (p.A174=). (J:358328)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Alas2 Mutation: 12 strains or lines available

References

• Original: J:358328 Ducamp S, et al., Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine. Blood. 2024 Sep 26;144(13):1418-1432
• All: 1 reference(s)