Poc1a^cha
Spontaneous Allele Detail

Summary

• Symbol: Poc1a^cha
• Name: POC1 centriolar protein A; chagun
• MGI ID: MGI:2135614
• Gene: Poc1a Location: Chr9:106158260-106227720 bp, + strand Genetic Position: Chr9, 57.46 cM, cytoband F1
• Alliance: Poc1a^cha page

Mutation origin

• Strain of Origin: DBA.B6-A^hvy/a x DBA/2J

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Insertion
• Mutation details: Exon 8 is disrupted by the insertion of a nearly full-length transcript (in reverse orientation) of centromere protein W (Cenpw) gene, including a 61 nucleotide poly-A tail that is 24 bp downstream from the common polyadenylation sequence AUUAAA. The total size of the insertion is 495 bp, and it includes a 5 untranslated region (UTR) lacking only seven bp relative to the published transcription start site, all three exons of Cenpw, and a 3UTR. Sequencing of the mutant RT-PCR product revealed that exon 8 is skipped precisely, preserving the reading frame of the transcript. Western blots were carried out to detect the expressed protein in tibiae. A single band of similar intensity was detected in wild type and mutant tibia, suggesting that a mutant protein is expressed. (J:227335)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

8 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 Poc1a Mutation: 18 strains or lines available

References

• Original: J:90436 Cha KB, et al., Skeletal dysplasia and male infertility locus on mouse chromosome 9. Genomics. 2004 Jun;83(6):951-60
• All: 2 reference(s)