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Allele : Cln3<tm1.1Mem> CLN3 lysosomal/endosomal transmembrane protein, battenin; targeted mutation 1.1, Marcy MacDonald

Primary Identifier  MGI:2388888 Allele Type  Targeted
Attribute String  Null/knockout Gene  Cln3
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  A floxed neo cassette that had replaced exons 7 and 8 was excised from Cln3tm1Mem via in vivo cre mediated recombination in the germline. Expression analyses showed the presence of various aberrantly splice transcripts. Translation of a cDNA derived from RT-PCR analysis produced a protein containing the amino and carboxyl terminals as well as a novel mid-section. BLASTN revealed homology with a protein isolated from a patient with the juvenile-onset form of neuronal ceroid lipofuscinosis (JNCL).
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • Cln3<deltaex7/8>,
  • Cln3<deltaex7/8>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

Trail: Allele

0 Driven By

31 Publication categories

Trail: Allele