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Ank1pale
Spontaneous Allele Detail
Nomenclature
Symbol: Ank1pale
Name: ankyrin 1, erythroid; pale lethal
MGI ID: MGI:4367449
Gene: Ank1  Location: Chr8:23464860-23640513 bp, + strand  Genetic Position: Chr8, 11.42 cM
The pale and lethal phenotype of Ank1pale/Ank1pale 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 detailsThis 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  67 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/16/2021
MGI 6.17
The Jackson Laboratory