Snrpntm3Alb
Targeted Allele Detail
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Symbol: |
Snrpntm3Alb |
Name: |
small nuclear ribonucleoprotein N; targeted mutation 3, Arthur L Beaudet |
MGI ID: |
MGI:2384045 |
Gene: |
Snrpn Location: Chr7:59632243-59789967 bp, - strand Genetic Position: Chr7, 34.04 cM
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Alliance: |
Snrpntm3Alb page
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Germline Transmission: |
Earliest citation of germline transmission:
J:56617
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Parent Cell Line: |
AB2.2 (ES Cell)
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Strain of Origin: |
129S7/SvEvBrd-Hprt1b-m2
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Allele Type: |
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Targeted (Null/knockout) |
Mutations: |
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Insertion, Intragenic deletion
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Mutation details: A 6 kb region of the gene encompassing exon 2 was replaced with an HPRT-loxP-neo cassette via homologous recombination resulting in deletion of 32 amino acids from the smaller of 2 open reading frames. The larger downstream open reading frame remains intact. RT-PCR analysis of heterozygous mutant animals showed expression of only wild-type transcripts in mice carrying a maternally derived mutation, and in mice carrying a paternally derived mutation the mutant transcript and transcripts of the neo gene are expressed. The deletion does not affect maternal-paternal imprinting of the DNA.
(J:56617)
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View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Carrying any Snrpn Mutation: |
23 strains or lines available
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Original: |
J:56617 Tsai TF, et al., Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Hum Mol Genet. 1999 Aug;8(8):1357-64 |
All: |
4 reference(s) |
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