Genomic Feature
hg14
Notes
| Comment | Citation |
|---|---|
| more likely fully null allele | Rissone et al., 2019 |
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 19: 35428769 - 35428770 (GRCz11) (1) Details
- Nucleotide change
- TT/-
- Variant Notes
-
Deletion of 2 bps in exon1, cDNA: 45delAA, p:K16RfsX62
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 2 bp deleted at position 45 in Exon 1 (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
CGTACAGAACTGGAAATAAATACAATGTGTAACGTTACATGACGACAGAACTTGACGTTAACGTTACATATCATAACTGACATTACTGAGTGAGCTAACGTGTCATTCCCAGGAAAACAGTGAGGTAAATTTGGTTTTATATTCACACATTTAGACTTTAAAATATACTTTCTGAATGTATCAATTGCAAATTCTAAATAGTAAAATCATATTAACATTGTATTTGACTATCAAAGCACAACAATGTTCAGTCAGTAAAATAAGGCTAATGTTGTTTTGAAGTCATACTTGCATATGATTTCAGACCGAATATTCAAAGTAACATTACTATGGTAAACACTGTATAGAGCATATCACTGAACTGAATATAAAACCAACTTCACCTCAATAACCCAGAGCACTATCCCGCTTCAGAATGAGCCACGCGGCCCTTTGGATAAACTCTCACCTGCGTTCCCTTCCCCGCGCCGGGCGGCCCGAGCAGAATGGCCCGTATGCCT
TT/- CCGTATACCGGAGACGGTATCGTCCTCTTGTGTGCTAGGGGCCATGGCTACAGCTTCTTTACTAACTAAACACACTTCTCTCCACTACACACTTTGCGTCCACTAACTCTCTCAGCCTAGAAAGGAAGTGGTAACGCCTCCGTTTGCTGAGTATGGACTCAAAACCCCGCCTTCTCTCACCAAACTAATGATCTGATTAGCCAAAGGCACGCCATTCACACAGAACGCAAGCTCATTGGATGAAATCGAATGCCTCAGTATCACATAGCATCCGGATTTTGGCCTAGAATGACACATCGCACTGGAGGATCAAGATGAGCAGGTTTATATCACAGAGCTTTAGATAAGGCGGAATGAGATATCCGTATCTAAAACGACACCTTAATGGCTATATCAGAATGTTCAAAGGTCGTTATTACGCGTTTGTTCTTCCGACTTAATTGATAACTTTATATTAACCACAGATCATAATTTGGAGGTCTTTTAACATTTTAAAACCT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| ak2hg14/hg14 | Homozygous | ♀+/- ♂+/- | 6 figures  from 2 publications | 6 figures from 2 publications | |
| ak2hg14/hg14 (EKW) | Homozygous | ♀+/- ♂+/- | |||
| ak2hg14/hg14; s356tTg | Complex | 2 figures from Rissone et al., 2019 | 2 figures from Rissone et al., 2019 | ||
| ak2hg14/hg14; sd2Tg; y1Tg | Complex | Fig. 4 from Rissone et al., 2015 | |||
| ak2hg14/hg14; sqet20Et | Complex | Fig. 4. from Rissone et al., 2019 | |||
| ak2hg14/hg14; sorbs2bmn0002Gt; s356tTg | Complex | Fig. 4. from Rissone et al., 2019 | |||
| ak2hg14/hg14; tnks1bp1y229Gt; nns8Tg | Complex | Fig. 5. from Rissone et al., 2019 | Fig. 3. from Rissone et al., 2019 |
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Supplemental Information
- Genotyping protocol
- None
- Rissone, A., Jimenez, E., Bishop, K., Carrington, B., Slevin, C., Wincovitch, S.M., Sood, R., Candotti, F., Burgess, S.M. (2019) A model for reticular dysgenesis shows impaired sensory organ development and hair cell regeneration linked to cellular stress. Disease models & mechanisms. 12(12):
- Rissone, A., Weinacht, K.G., la Marca, G., Bishop, K., Giocaliere, E., Jagadeesh, J., Felgentreff, K., Dobbs, K., Al-Herz, W., Jones, M., Chandrasekharappa, S., Kirby, M., Wincovitch, S., Simon, K.L., Itan, Y., DeVine, A., Schlaeger, T., Schambach, A., Sood, R., Notarangelo, L.D., Candotti, F. (2015) Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress. The Journal of experimental medicine. 212(8):1185-202
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