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Allele : Cln8<mnd> CLN8 transmembrane ER and ERGIC protein; motor neuron degeneration

Primary Identifier  MGI:1856959 Allele Type  Spontaneous
Attribute String  Null/knockout Gene  Cln8
Inheritance Mode  Recessive Strain of Origin  B6.KB2-H2<b5>
Is Recombinase  false Is Wild Type  false
description 

Early papers (J:8492, J:1224) state that this allele exhibits phenotypic similarity to amytrophic lateral sclerosis (ALS), however further analysis (J:12816, 56219) revealed that it is a better model for neuronal ceroid lipofuscinoses (Batten's disease) than for ALS.

molecularNote  A single nucleotide insertion (267-268C, codon 90) predicts a frameshift and a truncated protein.
  • mutations:
  • Insertion
  • synonyms:
  • mnd,
  • mnd,
  • Cln8mnd,
  • Cln8mnd
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

12 Carried By

Trail: Allele

0 Driven By

54 Publication categories

Trail: Allele