Crb1^em4Jnk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Crb1^em4Jnk
• Name: crumbs family member 1, photoreceptor morphogenesis associated; endonuclease-mediated mutation 4, Jeremy N Kay
• MGI ID: MGI:6467934
• Synonyms: Crb1^null
• Gene: Crb1 Location: Chr1:139124794-139304838 bp, - strand Genetic Position: Chr1, 60.87 cM
• Alliance: Crb1^em4Jnk page

Mutation origin

• Strain of Origin: (C57BL/6J x SJL)F1

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 13,783 bp deletion from chr1: 139,257,194-139,243,411, deleting the entire first exon of the B isoform (Crb1-B) and the promoter region in addition to exon 6 and part of exon 7 of the A isoform (Crb1-A). This deletion eliminates the exon 7 splice acceptor and is predicted to exclude exon 7 altogether. Splicing from exons 5 to 8 (as in the A isoform) and 4 to 8 (as in the A2 isoform) would result in frameshifts. The C isoform-specific retained intron after exon 6 is also entirely deleted. Thus this deletion disrupts all isoforms and generates a null allele. (J:293375)

Expression

In Structures Affected by this Mutation:

1 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 Crb1 Mutation: 92 strains or lines available

References

• Original: J:293375 Ray TA, et al., Comprehensive identification of mRNA isoforms reveals the diversity of neural cell-surface molecules with roles in retinal development and disease. Nat Commun. 2020 Jul 3;11(1):3328
• All: 1 reference(s)