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Asphtm1Jed
Targeted Allele Detail
Nomenclature
Symbol: Asphtm1Jed
Name: aspartate-beta-hydroxylase; targeted mutation 1, Joe E Dinchuk
MGI ID: MGI:2179287
Synonyms: BAH-
Gene: Asph  Location: Chr4:9448069-9669344 bp, - strand  Genetic Position: Chr4, 4.17 cM, cytoband A1
Asphtm1Jed/Asphtm1Jed mice exhibit a shortened snout, palatal ridge defect and fusion of the digits

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

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:75888
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsReplacement of exons 22-23 with a PGK-neo cassette via homologous recombination specifically disrupted the aspartyl beta-hydroxylase activity of one of 3 different protein products from this gene. Western blot of various tissues from homozygous mutant animals did not detect protein product and real-time PCR assay did not detect transcripts containing exons 22 and 23. In vitro and in vivo enzyme assays demonstrated protein extracts from homozygous mutant animals lacked aspartyl beta-hydroxylase activity. (J:75888)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Asph Mutation:  37 strains or lines available
References
Original:  J:75888 Dinchuk JE, et al., Absence of Post-translational Aspartyl beta -Hydroxylation of Epidermal Growth Factor Domains in Mice Leads to Developmental Defects and an Increased Incidence of Intestinal Neoplasia. J Biol Chem. 2002 Apr 12;277(15):12970-7
All:  1 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
09/19/2017
MGI 6.10
The Jackson Laboratory