Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol: Asphtm1Jed Name: aspartate-beta-hydroxylase; targeted mutation 1, Joe E Dinchuk MGI ID: MGI:2179287 Synonyms: BAH- Gene: Asph  Location: Chr4:9449085-9669344 bp, - strand  Genetic Position: Chr4, 4.17 cM, cytoband A1 Alliance: Asphtm1Jed page

Asphtm1Jed/Asphtm1Jed mice exhibit a shortened snout, palatal ridge defect and fusion of the digits Show the 1 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:75888
Parent Cell Line:	AB2.2 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1b-m2

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Replacement 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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:	61 strains or lines available

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)