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Fa2htm1Meck
Targeted Allele Detail
Summary
Symbol: Fa2htm1Meck
Name: fatty acid 2-hydroxylase; targeted mutation 1, Matthias Eckhardt
MGI ID: MGI:3829000
Synonyms: FA2H-
Gene: Fa2h  Location: Chr8:112071770-112120453 bp, - strand  Genetic Position: Chr8, 57.98 cM
Alliance: Fa2htm1Meck page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:143373
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprtb-m3
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA lacZ/neomycin resistance cassette replaced 149 bp of exon 3, all of intron 3, exon 4, and 402 bp of intron 4. The lacZ/neomycin cassette was inserted in frame with exon 3. Absence of mRNA was confirmed by Northern blot analysis. (J:143373)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 37 assay results
In Structures Affected by this Mutation: 6 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 Fa2h Mutation:  16 strains or lines available
References
Original:  J:143373 Zoller I, et al., Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration. J Neurosci. 2008 Sep 24;28(39):9741-54
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/22/2022
MGI 6.22
The Jackson Laboratory