Ascl5^em1Port
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ascl5^em1Port
• Name: achaete-scute family bHLH transcription factor 5; endonuclease-mediated mutation 1, Thantrira Porntaveetus
• MGI ID: MGI:8325758
• Synonyms: Ascl5^Mut
• Gene: Ascl5 Location: Chr1:135978542-135979108 bp, + strand Genetic Position: Chr1, 59.54 cM
• Alliance: Ascl5^em1Port page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Glutamic acid codon 89 (GAG) was changed to lysine (AAG) (c.265G>A p.E89K) and a diagnostic BsrDI restriction site was created through a silent C>T mutation in codon N86 using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation, in the bHLH domain of the encoded protein, is the equivalent of the human c.274G>A (p.E92K) mutation associated with lobodontia, and in mice, it is associated with dental anomalies. (J:382307)

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	10 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 Ascl5 Mutation: 3 strains or lines available

References

• Original: J:382307 Theerapanon T, et al., A missense variant in ASCL5 leads to lobodontia. Nat Commun. 2026 Feb 12;17(1)
• All: 1 reference(s)