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Allele : Snrpn<tm2Cbr> small nuclear ribonucleoprotein N; targeted mutation 2, Camilynn I Brannan

Primary Identifier  MGI:2155245 Allele Type  Targeted
Attribute String  Null/knockout Gene  Snrpn
Transmission  Germline Strain of Origin  129S/Sv
Is Recombinase  false Is Wild Type  false
description  ES cell line = CJ7 or J4. In J:47318 CJ7 male ES cells were used. All offspring generated from crosses of these chimeras to C57BL/6 females died by postnatal day 7. In J:61887 the same targeting vector was used in CJ7 (male) and J4 (female, XO) ES cells. It is unclear which of these targeting events was used to generate the line of mice used in subsequent papers as both parental inheritence of the allele and strain background influence the survival of offspring.
molecularNote  A neomycin resistance gene cassette replaced 42 kb of sequence encompassing 23 kb upstream of the gene and Snrpn exons 1-6. Unintentionally, the neo gene and several kb of flanking endogenous sequence (from upstream of Snrpn) was amplified four-fold at the insertion site. Northern blot analysis of brain tissue using a cDNA probe for the gene did not detect any transcript in heterozygous mutant mice. The deleted upstream sequence includes Prader-Willi syndrome imprinting center PWS-IC Rr346 and Angelman syndrome imprinting center AS-IC Rr70.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • PWS-IC deletion,
  • PWS-IC<del>,
  • PWS-IC<del35kb>,
  • deltaPWS-IC,
  • IC deletion,
  • PWS-IC deletion,
  • PWS-IC<del35kb>,
  • deltaPWS-IC,
  • PWS-IC<del>,
  • IC deletion
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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2 Carried By

Trail: Allele

0 Driven By

22 Publication categories

Trail: Allele