ZMP
bbs2
Ensembl ID:
ZFIN ID:
Description:
Bardet-Biedl syndrome 2 protein homolog [Source:UniProtKB/Swiss-Prot;Acc:Q98SP7]
Human Orthologue:
BBS2
Human Description:
Bardet-Biedl syndrome 2 [Source:HGNC Symbol;Acc:967]
Mouse Orthologue:
Bbs2
Mouse Description:
Bardet-Biedl syndrome 2 (human) Gene [Source:MGI Symbol;Acc:MGI:2135267]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa172 | Nonsense | Confirmed mutation in F2 line | Not yet available |
| sa248 | Nonsense | F2 line generated | Not yet available |
| sa2952 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa172
Status:
Confirmed mutation in F2 line
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000061000 | Nonsense | 48 | 715 | 3 | 18 |
Genomic Location (Zv9):
Chromosome 18 (position 17188405)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 17540171 |
| GRCz11 | 18 | 17529237 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGTTTTTATTTTTAAACCTATCCAGGTGTTTATCCACAACCCTCACACT[C/T]GAGCCCAGAGACCAACAGCCCACCGGTTGAGTCAAAGCACCCAGGACTCG
Long Flanking Sequence:
GCTGAGCCACAATGCTAGTGCCCATCTTCACACTTAAACTGAACCATAAAATAAATCCTCGAATGGTTGCTATTGGAAAGTATGATGGAATACATCCATGCCTTACCGCAGCCACACAAGCAGGGAAGGTAAAGTAAAAGAATTACATAGTATGTATCCCAATTCAAATACAGCTAATGTAAATAGATCCAGAGTTCAAATATATTCATACAGAGAGCAGTGCCAATTTTGTCCTTATTTGTTGTATGTGATTAGAATGGACTTCATAGAAGTTTTAGCTATGCCAGTTTTAATCCTCTATCCTCTTTACAAATTAACAAGCAGCATCTTTTGGTGCTCTTGAGTGTGTGCATTTGCTATTAAAGTTGATATTTAATATGCAATAAGTTAACTGAACTTAGCATATAATTTTCTAGGGTTTCATTTGCATTTTTCCCACACATTACAATCCAGTTTTTATTTTTAAACCTATCCAGGTGTTTATCCACAACCCTCACACT[C/T]GAGCCCAGAGACCAACAGCCCACCGGTTGAGTCAAAGCACCCAGGACTCGGACATCTCACTGCTTAATATCAACCAGTCAGTCAGCTGTCTGACCGCTGGCACTTTAGGACCAAAGAGCACAGGGGACACGCTGCTCGTAGGCTCTCAAACCAACCTGTTGGCCTATGACGTTCATGACAACACCGACGTCTTTTACAAGGAGGTAACATGACGTGATTGTTTATAAAATCCCTAATTTAGAGTGGATTTCCTACTTAAGTTGTTGATATCAGATATTAAACCTCATTTTGTAAAAAATAATACCTTACCATAGACCGTGACAATCAAACTGCATTGTTGAAATGAAAAATACAGAAGTTTTTTATTACAAATGTCAACTTTTACTATGCAAAAATGCTTTTCTTCCTTAGAGCTTTTTTATTTCTAGTCCAAATATCTAAACAATTTACAGGGGTGGTCCACTACGATATCATATTTTAAACTTTAGTTGATGTGTAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa248
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000061000 | Nonsense | 353 | 715 | 10 | 18 |
| ENSDART00000061000 | Nonsense | 353 | 715 | 10 | 18 |
Genomic Location (Zv9):
Chromosome 18 (position 17183870)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 17535636 |
| GRCz11 | 18 | 17524702 |
KASP Assay ID:
554-2602.1 (used for ordering genotyping assays)
KASP Sequence:
ACCTGATCAGAGAGCTGAGTCAACGGAAACAGAACTTGATGCTYGAGTTR[C/T]GAAACTATGAGGAAAATGCCAAGGTTAGACATGCTATTCAAGTGATSCAT
Long Flanking Sequence:
GTCAAAAAATCATGCCATGAGTATCCACGCTTTTGACCTTAACGCTGATGGTGTTGTTGAGCTCATAACTGGATGGTCCAATGGAAAGGTCAGTCTTATAGACACATTTGCCTTGCAATATATATACTATATTAGTAAAATCAGATGACTTCCTGTGATTCCATATTTAGATTGACGCTCGTAGTGATCGTACTGGTGAGGTGATCTTCAAGGATAACTTCTCATCCTCTGTGGCCGGGGTTGTTGAGGGAGATTATCGGATGGACGGACAGATCCAGCTCATATGTACGTCTGTGGAGGGAGAAGGTAAGACGTTGGACCGTTATTTTAAATGCTTGACTGTTACCTTTGTGAATTGGCTCAAATATATGTGCCATTCTACAGTACGTGGCTACCTGCCTGCCAGTAAGGAGATGAAGGGAAACCTTATGGACTCAAGCATAGAACAAGACCTGATCAGAGAGCTGAGTCAACGGAAACAGAACTTGATGCTTGAGTTA[C/T]GAAACTATGAGGAAAATGCCAAGGTTAGACATGCTATTCAAGTGATCCATATTGATGTTGCATATGCAGTTGTGGCTAGTGGTATTTGTTTGACATAGGCTCTTCCTGGGCTTTCGGAGGGAGAATCTAAGATGGGTGTAATTCCAGCCAACACGCAGCTCCAGACGGCCCTCTCTGTAAGAAGAGCCTCGGAGAGCCAGAAAGCACACATAGAGCTCAACATCTCCACTCCAAATGGTACAGTTTAAGCTGTTCTCTCTCTGTGGTTGGTTATATAATCCACTTGTTCTAAGCTAGCCGCACACTTGAACTGATTTCTTTAGTCTTTGCCATGATGACAGTACATAATATTTTACTCATTATTTTACAAGATTCTTGTATTCAGCTTAAAGTGCAATTTAAAGGCTTAACTTGGTTAACTGGGTTAACTAGGCCATTAAGGTAAATTAGGCAAGACATTGGAGTGGTTTGTTCTGTAGCCAATTGGAAAAACTTTTTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa2952
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000061000 | Nonsense | 353 | 715 | 10 | 18 |
| ENSDART00000061000 | Nonsense | 353 | 715 | 10 | 18 |
Genomic Location (Zv9):
Chromosome 18 (position 17183870)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 17535636 |
| GRCz11 | 18 | 17524702 |
KASP Assay ID:
554-2602.1 (used for ordering genotyping assays)
KASP Sequence:
ACCTGATCAGAGAGCTGAGTCAACGGAAACAGAACTTGATGCTYGAGTTR[C/T]GAAACTATGAGGAAAATGCCAAGGTTAGACATGCTATTCAAGTGATSCAT
Long Flanking Sequence:
GTCAAAAAATCATGCCATGAGTATCCACGCTTTTGACCTTAACGCTGATGGTGTTGTTGAGCTCATAACTGGATGGTCCAATGGAAAGGTCAGTCTTATAGACACATTTGCCTTGCAATATATATACTATATTAGTAAAATCAGATGACTTCCTGTGATTCCATATTTAGATTGACGCTCGTAGTGATCGTACTGGTGAGGTGATCTTCAAGGATAACTTCTCATCCTCTGTGGCCGGGGTTGTTGAGGGAGATTATCGGATGGACGGACAGATCCAGCTCATATGTACGTCTGTGGAGGGAGAAGGTAAGACGTTGGACCGTTATTTTAAATGCTTGACTGTTACCTTTGTGAATTGGCTCAAATATATGTGCCATTCTACAGTACGTGGCTACCTGCCTGCCAGTAAGGAGATGAAGGGAAACCTTATGGACTCAAGCATAGAACAAGACCTGATCAGAGAGCTGAGTCAACGGAAACAGAACTTGATGCTTGAGTTA[C/T]GAAACTATGAGGAAAATGCCAAGGTTAGACATGCTATTCAAGTGATCCATATTGATGTTGCATATGCAGTTGTGGCTAGTGGTATTTGTTTGACATAGGCTCTTCCTGGGCTTTCGGAGGGAGAATCTAAGATGGGTGTAATTCCAGCCAACACGCAGCTCCAGACGGCCCTCTCTGTAAGAAGAGCCTCGGAGAGCCAGAAAGCACACATAGAGCTCAACATCTCCACTCCAAATGGTACAGTTTAAGCTGTTCTCTCTCTGTGGTTGGTTATATAATCCACTTGTTCTAAGCTAGCCGCACACTTGAACTGATTTCTTTAGTCTTTGCCATGATGACAGTACATAATATTTTACTCATTATTTTACAAGATTCTTGTATTCAGCTTAAAGTGCAATTTAAAGGCTTAACTTGGTTAACTGGGTTAACTAGGCCATTAAGGTAAATTAGGCAAGACATTGGAGTGGTTTGTTCTGTAGCCAATTGGAAAAACTTTTTTG
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |