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Anktm1.1Ejr
Targeted Allele Detail
Nomenclature
Symbol: Anktm1.1Ejr
Name: progressive ankylosis; targeted mutation 1.1, Ernst J Reichenberger
MGI ID: MGI:4889192
Synonyms: AnkKI
Gene: Ank  Location: Chr15:27466677-27594909 bp, + strand  Genetic Position: Chr15, 10.23 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:168526
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA three base deletion of TTC at nucleotide positions 1130-1132 in exon 9 was created. This causes the deletion of phenylalanine at amino acid residue 377. At the same time, a floxed PGK neomycin selection cassette was inserted in intron 8 608 bp 5' of the TTC deletion. Founder mice were crossed to cre expressing mice in order to excise the selection cassette. (J:168526)
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: 13 anatomical structures
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 Ank Mutation:  23 strains or lines available
References
Original:  J:168526 Chen IP, et al., Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia. J Bone Miner Res. 2009 Jul;24(7):1206-15
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory