Genomic Feature
hg37
Notes
No data available
Variants
- Variant Type
- Delins
- Variant Location
- Chr 2: 3840408 (GRCz11) (1) Details
- Nucleotide change
- C/ATCAG
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 5 bp inserted / 1 bp deleted in Exon 7 (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
ACACACACCTGATATACAGCCACATCGCACTACTACGAGTGTGATATTGCTCATATATTCTATATTTTTTCACTTTAGTATTTTATAACTTTTTTATTAGTATTTATTTATGATTATTATTATTTTTAGATTTTATTTTATATTATTTGCTGCCTAGGTTGAGTTGTCAGTAACTCCGCTTTTATTTTCTGCCTGTTTACATGTCTGTAAGATGTAGTTTAATTCTAGTCTGTTAACTTCATCCTTATGGTTTATGATTGCTCGTTTATTTATTATTTGTGGCTTTTTAATGGTTTTTAATTACTAAGCAGGTCAGTCCATAACTTACTGCTGTTTTATTGGTTATTTATGTTTTGTTTTATTTTTTGAATTGTTTAATAGTGGTTTATATTTTGTTATTTGTTGATTTATTTATTTTTTTATTGTTGTGGTTTATCTCATTACAGAAGGAGCGTGGTCACATCTGAATATGGCCCAATTCTTGACAGCAATCAGCCCCA
C/ATCAG TCCTTAAACTCTGATGGCACAGATTTAATAGGTATGTAATTTGTAACGTGGGCAAGTGTGTTTGTTTCTCTTAGCCAATTAAAACAAATCCTTAGCATTTAACCCTATATAAGTCTGACATTTAATACTTGAAAGCTTTGCCTTGGTGAAACCTGCAGACACCCTCATGTCGTGTGTGCTTTTTTCCAGATGAGGCGTCGTGCTGTGAGACTGTGGGCGAGCGTTTCGAAAACTCTCTGCGTCTGGTGTTCAGCCGCTGGGGCTCTCTGTGCGTCCGGCAGCCGCTCACCATCATCTTGAGCAGTCTGGTGCTGATCTGCATCTGCTCAGCCGGACTCTCCTACATGCGCATCACCACTAACCCTGTGGAGCTCTGGTCTGCTCCCAGCAGCAGAGCACGGCAGGAGAAAAACTACTTCGACCAGCACTTCGGGCCCTTCTTCCGCACCGAGCAGCTCATCATCACCACTCCATGGACCGAGGAGGGAGGTTTCTCCACC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| npc1hg37/hg37 | Homozygous | ♀+/- ♂+/- | 9 figures  from Tseng et al., 2018 | 2 figures from Tseng et al., 2018 | |
| npc1hg37/hg37 (EKW) | Homozygous | ♀+/- ♂+/- | |||
| npc1hg37/hg37 (EKW) | Homozygous | ♀-/- ♂+/- | Fig. S11 from Tseng et al., 2021 | ||
| npc1hg37/+ (EKW) | Heterozygous | ♀-/- ♂+/- |
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Supplemental Information
- Genotyping protocol
- None
- Zareba, J., Cattaneo, E.F., Villani, A., Othman, A., Streb, S., Peri, F. (2024) NPC1 links cholesterol trafficking to microglial morphology via the gastrosome. Nature communications. 15:86388638
- Tseng, W.C., Johnson Escauriza, A.J., Tsai-Morris, C.H., Feldman, B., Dale, R.K., Wassif, C.A., Porter, F.D. (2021) The role of Niemann-Pick type C2 in zebrafish embryonic development. Development (Cambridge, England). 148(7):
- Tseng, W.C., Loeb, H.E., Pei, W., Tsai-Morris, C.H., Xu, L., Cluzeau, C.V., Wassif, C.A., Feldman, B., Burgess, S.M., Pavan, W.J., Porter, F.D. (2018) Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds.. Disease models & mechanisms. 11(9)
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