Cwc27^em1Bay
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cwc27^em1Bay
• Name: CWC27 spliceosome-associated protein; endonuclease-mediated mutation 1, Baylor College of Medicine
• MGI ID: MGI:6342430
• Synonyms: Cwc27^K338fs
• Gene: Cwc27 Location: Chr13:104767648-104953649 bp, - strand Genetic Position: Chr13, 56.64 cM, cytoband D1
• Alliance: Cwc27^em1Bay page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Lexicon

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph, Modified isoform(s))
• Mutations: Intragenic deletion, Single point mutation
• Mutation details: An eight bp deletion in exon 11 (AAAAGTGG) was generated by CRISPR/Cas9 mutagenesis. This resulted in a shift of the reading frame. RT-PCR in mouse retina RNA found that Cwc27 mRNA level in homozygous mice was 45% of that in control mice, suggesting that this allele is a hypomorph. (J:240676)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Cwc27 Mutation: 52 strains or lines available

References

• Original: J:240676 Xu M, et al., Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017 Apr 06;100(4):592-604
• All: 4 reference(s)