Asphtm1Jed
Targeted Allele Detail
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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
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Alliance: |
Asphtm1Jed page
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Asphtm1Jed/Asphtm1Jed mice exhibit a shortened snout, palatal ridge defect and fusion of the digits
Show the 1 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:75888
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Parent Cell Line: |
AB2.2 (ES Cell)
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Strain of Origin: |
129S7/SvEvBrd-Hprt1b-m2
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Allele Type: |
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Targeted (Null/knockout) |
Mutations: |
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Insertion, Intragenic deletion
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Asph Mutation: |
61 strains or lines available
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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) |
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