Mab21l1^em1Drf
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mab21l1^em1Drf
• Name: mab-21-like 1; endonuclease-mediated mutation 1, David R FitzPatrick
• MGI ID: MGI:7867729
• Synonyms: Mab21l1^R51L
• Gene: Mab21l1 Location: Chr3:55689931-55692422 bp, + strand Genetic Position: Chr3, 26.65 cM, cytoband E3-F1
• Alliance: Mab21l1^em1Drf page

Mutation origin

• Strain of Origin: C57BL/6JCrl

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a CGT to TTA change resulting in an arginine to leucine substitution at amino acid 51 (p.R51L). Silent substitutions were also introduced in the flanking regions specific to the repair template. Ultrarare monoallelic missense variants altering Arg51 codon have been identified in 3 families with severe aniridia and/or microphthalmia. (J:351048)

Expression

In Structures Affected by this Mutation:

11 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 Mab21l1 Mutation: 15 strains or lines available

References

• Original: J:351048 Hall HN, et al., Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. PLoS One. 2022;17(11):e0268149
• All: 1 reference(s)