Asph^tm1Jed
Targeted Allele Detail

Summary

• Symbol: Asph^tm1Jed
• 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: Asph^tm1Jed page

Asph^tm1Jed/Asph^tm1Jed 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-Hprt1^b-m2

Mutation description

• 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)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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: 61 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)