Fa2h^tm1Meck
Targeted Allele Detail

Summary

• Symbol: Fa2h^tm1Meck
• 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: Fa2h^tm1Meck page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:143373
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

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

Expression

In Mice Carrying this Mutation:	37 assay results
In Structures Affected by this Mutation:	4 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 Fa2h Mutation: 24 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)