PMID- 21846745
OWN - NLM
STAT- MEDLINE
DCOM- 20111207
LR  - 20191210
IS  - 1465-7333 (Electronic)
IS  - 0022-1503 (Linking)
VI  - 102 Suppl 1
DP  - 2011 Sep-Oct
TI  - Lix1 knockout mouse does not exhibit spinal muscular atrophy phenotype.
PG  - S32-9
LID - 10.1093/jhered/esr031 [doi]
AB  - Feline spinal muscular atrophy (SMA) is an autosomal recessive juvenile onset 
      lower motor neuron disease caused by an  approximately  140 kb deletion that disrupts 
      expression of 2 genes, limb expression 1 (LIX1) and leucyl/cystinyl 
      aminopeptidase (LNPEP). A previously generated Lnpep knockout (KO) mouse did not 
      demonstrate a neuromuscular phenotype. Little is known about LIX1, except that it 
      is evolutionarily conserved and highly expressed in spinal cord motor neurons. To 
      determine whether loss of LIX1 alone is responsible for the feline SMA phenotype, 
      a Lix1 intron 1 gene trap KO mouse line was obtained from Lexicon Genetics, Inc. 
      Mating of F(1) heterozygotes produced offspring in the expected Mendelian ratios. 
      KO and normal littermates were studied through 2 years of age by hanging latency, 
      rotarod, inked footprint analysis, and histological methods. Disruption of Lix1 
      expression did not affect survival nor result in any neuromuscular phenotype. 
      Reverse transcriptase-PCR amplification of spinal cord RNA identified a Lix1 
      alternative transcript beginning in intron 4 and containing exons 5 and 6. The 
      alternative transcript appeared to be rodent specific, and its expression was not 
      disrupted in Lix1 KO mice. Expression of the alternative transcript may have 
      compensated for the loss of Lix1 in the KO mice and thus protected against motor 
      neuron degeneration.
FAU - Wakeling, Erin N
AU  - Wakeling EN
AD  - Genetics Program, Michigan State University, East Lansing, MI 48824, USA.
FAU - Fyfe, John C
AU  - Fyfe JC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Hered
JT  - The Journal of heredity
JID - 0375373
RN  - 0 (Autophagy-Related Proteins)
RN  - 0 (DNA Primers)
RN  - 0 (Lix1 protein, mouse)
RN  - 0 (Proteins)
SB  - IM
MH  - Alternative Splicing/genetics
MH  - Animals
MH  - Autophagy-Related Proteins
MH  - Cats/*genetics
MH  - DNA Primers/genetics
MH  - Electrophoresis, Agar Gel
MH  - Genotype
MH  - Histological Techniques
MH  - Mice
MH  - Mice, Knockout
MH  - Muscular Atrophy, Spinal/*genetics
MH  - *Phenotype
MH  - Proteins/*genetics/metabolism
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Rotarod Performance Test
MH  - Spinal Cord/metabolism
EDAT- 2011/08/24 06:00
MHDA- 2011/12/13 00:00
CRDT- 2011/08/18 06:00
PHST- 2011/08/18 06:00 [entrez]
PHST- 2011/08/24 06:00 [pubmed]
PHST- 2011/12/13 00:00 [medline]
AID - esr031 [pii]
AID - 10.1093/jhered/esr031 [doi]
PST - ppublish
SO  - J Hered. 2011 Sep-Oct;102 Suppl 1:S32-9. doi: 10.1093/jhered/esr031.