Genomic Feature
p5bnc
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 9: 48477864 (GRCz11) (1) Details
- Nucleotide change
- C/T
- Variant Notes
-
Nonsense mutation in lrp2a resulting in Q413X.
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>T (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Gln>Stop at position 413 (1)
- Flanking Sequence
-
GGATAAGTTGGGGGTTCATTCCGCTGTGGCCAGCACTCATGAATAAAGGAACTAAGCCGAAGGAAAATTATTGAATGACTGTATTACATGCTTTTACACCAGCATCACAGCTTTCAGACGGATATTCCTGCTGTTAGCCGTTATCTCACATGTCCATTAATCAGGCTTTTTGTAACCCATCACTCTGCCTGCATCGCACACCATCATGTTATTAAGCTCCTGAAATGTCTGCCTCCCAACCATTTGTTTGGCAGCATCTGGAAAATGAATAACTAACGCTGGCACCACTCAGCCAATCCTAAACTCTCTCACATTAATTACGCCTTATCAAAAGTGCGTTATATAATGTGTGTTTTCTGAAAACTGTCAAGCTGTATCCGTCATTAATTCGCTGTGTTTGGTCATGTTTAGCTGGCGTGCCCTCGCTTATATTCTCCAACGGCAGAGACCTGCTGATCGCTGATGTTCATGGACACGGCTCTCAAACACTGGTTCAGTCC
C/T AGAACAGAGGAGCCGCTGTTGGTGTGGATTTTCATTACCAGCTGCAAAGGGTCTTTTGGACGGACACAATCCAAAATAAGGTAAAATAGACGGCAGGATAACAAAAACAACAACAACAACAACAGTCTTTTCAAGTTGCATTGATTTTTTTTTAATAAAATAGCATTTTATGGAGGTAGATTAGTCTCAAGTAACATTTTTATTGCATTGTATGGAGCAGGAATAGTCTCAATAATAATTGATGCAAAATACACACATTTTTTCACTCTTTGTTATATTGCAGGCATTTGCTGAAATCATTTAAGTAAATTTTTTTCTTCATTAATGTACACATAGCACCCCATATTGACACACAAACACAGAATTGTTGATATTTTTGCAGATTTATAAAACAGAAATCTGAAATATCACATGGTCCTAAGCATTCCGACTCTTTACTGTTACACTCATATATTTAACTCAGGTGCTGTCCATTTCTTCTGATCATCCTTGAGAGGGTT - Additional Sequence
- None
Fish
Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
---|---|---|---|---|---|
lrp2ap5bnc/p5bnc | Homozygous | ♀+/- ♂+/- | text only from Veth et al., 2011 | text only from Veth et al., 2011 | |
lrp2ap5bnc/p5bnc | Homozygous | ♀-/- ♂-/- | 2 figures from Kur et al., 2011 | text only from Kur et al., 2011 | |
lrp2ap5bnc/+ (AB) | Heterozygous | ♀+/- ♂+/- |
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Supplemental Information
- Genotyping protocol
- None
- Kur, E., Christa, A., Veth, K.N., Gajera, C.R., Andrade-Navarro, M.A., Zhang, J., Willer, J.R., Gregg, R.G., Abdelilah-Seyfried, S., Bachmann, S., Link, B.A., Hammes, A., and Willnow, T.E. (2011) Loss of Lrp2 in zebrafish disrupts pronephric tubular clearance but not forebrain development. Developmental Dynamics : an official publication of the American Association of Anatomists. 240(6):1567-1577
- Veth, K.N., Willer, J.R., Collery, R.F., Gray, M.P., Willer, G.B., Wagner, D.S., Mullins, M.C., Udvadia, A.J., Smith, R.S., John, S.W., Gregg, R.G., and Link, B.A. (2011) Mutations in Zebrafish lrp2 Result in Adult-Onset Ocular Pathogenesis That Models Myopia and Other Risk Factors for Glaucoma. PLoS Genetics. 7(2):e1001310
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