Spg11^{Gt(EUCE0085f05)Hmgu}
Gene trapped Allele Detail

Summary

• Symbol: Spg11^{Gt(EUCE0085f05)Hmgu}
• Name: SPG11, spatacsin vesicle trafficking associated; gene trap EUCE0085f05, Helmholtz Zentrum Muenchen GmbH
• MGI ID: MGI:4377985
• Synonyms: Spatacsin KO
• Gene: Spg11 Location: Chr2:121884001-121948867 bp, - strand Genetic Position: Chr2, 60.5 cM
• Alliance: Spg11^{Gt(EUCE0085f05)Hmgu} page

Spastic and ataxic gait in Spg11^{Gt(EUCE0085f05)Hmgu}/Spg11^{Gt(EUCE0085f05)Hmgu} mice

Show the 7 phenotype image(s) involving this allele.

Mutation origin

• Mutant Cell Line: EUCE0085f05
• Germline Transmission: Earliest citation of germline transmission: J:228803
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Gene trapped (Null/knockout)
• Mutation: Insertion of gene trap vector Vector: rsFlipROSAbgeo*
• Mutation details: A gene-trap cassette is integrated into intron 1 of the gene. This allele is predicted to encode a cytoplasmic fusion protein of the 82 N-terminal amino acids of the encoded protein with beta-geo under the control of the endogenous gene promoter. Northern analysis with a probe corresponding to part of exon 30 of the gene detected transcripts of the expected size in RNA isolated from control brains, and the transcript was absent in RNA isolated from homozygous trapped mice. Western blot analysis detected a polypeptide of the predicted size of the encoded protein in brain lysates from control mice, which was absent from protein lysates isolated from brains of homozygous trapped mice. (J:228803)
• Sequence Tags: Sequence tag details (1 tag)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  EUCE0085f05.q1k5SPK	FI530091 ; (MGI Seq Detail)	5'Splinkerette PCR	Chr2:121948499-121948695 bp (-)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

  12 gene trap insertions have trapped this gene; View all gene trap sequence tags in this region

Generation of the Spg11^{Gt(EUCE0085f05)Hmgu} allele

Disease models

Expression

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 Spg11 Mutation: 85 strains or lines available

References

• Original: J:141210 Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI), Mouse Gene Trap Data Load from dbGSS. Database Download. 2008
• All: 3 reference(s)