Ank1^pale
Spontaneous Allele Detail

Summary

• Symbol: Ank1^pale
• Name: ankyrin 1, erythroid; pale lethal
• MGI ID: MGI:4367449
• Gene: Ank1 Location: Chr8:23464860-23640513 bp, + strand Genetic Position: Chr8, 11.42 cM
• Alliance: Ank1^pale page

The pale and lethal phenotype of Ank1^pale/Ank1^pale mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: This spontaneous mutation was identified at The Jackson Laboratory. Sequence analysis of mutant genomic DNA compared with wild type C57BL/6J genomic DNA identified a single nucleotide transition from G to A at nucleotide 24224235 (build NCBI37 or m9). This mutation disrupts the consensus AG dinucleotide of the CAG splice acceptor of the adjacent exon (exon 26 of ENSMUST00000118733). (J:222308)
• Inheritance: Recessive

Disease models

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Ank1 Mutation: 106 strains or lines available

References

• Original: J:154215 Harris BS, et al., A new pale lethal mouse mutation (pale) has been identified on Chromosome 8. MGI Direct Data Submission. 2009
• All: 5 reference(s)