|
|
| Nomenclature |
|
Symbol:
|
Ank1nb
|
|
Name:
|
ankyrin 1, erythroid;
normoblastic anemia
|
|
MGI ID: |
MGI:1856298 |
|
Synonyms: |
nb, normoblastosis |
|
Gene:
|
Ank1
Location:
Chr8:22974844-23150497 bp, + strand
Genetic Position: Chr8,
11.42 cM
|
|
Mutation
origin |
|
Strain of Origin:
|
Non-inbred stock
|
|
Mutation
description |
|
Allele
Type: | |
Spontaneous |
|
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 |
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| References |
|
Original: |
J:30699
Bernstein SE,
"Hereditary disorders of the rodent erythron"
1969;():9-33
|
|
All: |
26 reference(s)
|
|
Analysis Tools
