Ank1^nb
Spontaneous Allele Detail

Summary

• Symbol: Ank1^nb
• Name: ankyrin 1, erythroid; normoblastic anemia
• MGI ID: MGI:1856298
• Synonyms: nb, normoblastosis
• Gene: Ank1 Location: Chr8:23464860-23640513 bp, + strand Genetic Position: Chr8, 11.42 cM
• Alliance: Ank1^nb page

Mutation origin

• Strain of Origin: Non-inbred stock

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: This mutation arose in 1965 in a heterogeneous stock of mice maintained by Katherine P. Hummel at The Jackson Laboratory. A guanosine residue at position 4367 is deleted in exon 36 resulting in a frame shift mutation that introduces a premature stop 13 codons downstream and produces a truncated but functional protein. (J:10432, J:103074)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Ank1 Mutation: 106 strains or lines available

References

• Original: J:30699 Bernstein SE, Hereditary disorders of the rodent erythron, in Genetics in Laboratory Animal Medicine. 1969:9-33.
• All: 26 reference(s)