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Allele : Snrpn<tm2Alb> small nuclear ribonucleoprotein N; targeted mutation 2, Arthur L Beaudet

Primary Identifier  MGI:2384039 Allele Type  Targeted
Attribute String  Null/knockout Gene  Snrpn
Transmission  Germline Strain of Origin  129S7/SvEvBrd-Hprt1<b-m2>
Is Recombinase  false Is Wild Type  false
description  Animals carrying the mutation on a paternally derived chromosome exhibit severe growth retardation and 40%-45% die before weaning. Animals carrying the mutation on a maternally derived chromosome develop normally.
molecularNote  A 4.8 kb region of the gene encompassing exon 1 was replaced with a loxP site flanked neomycin resistance gene cassette. The neo cassette was removed by transient expression of cre recombinase in correctly targeted ES cells. Northern blot analysis using a probe complementary to downstream exons showed significantly reduced gene expression in animals carrying the mutation on a paternally derived chromosome, but not when the animals carried the mutation on a maternally derived chromosome.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • PW-IC<delta4.8>,
  • PW-IC<delta4.8>,
  • del<4.8>,
  • del<4.8>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

8 Publication categories

Trail: Allele