aldh8a1

Ensembl ID:
ENSDARG00000036776
ZFIN ID:
ZDB-GENE-040912-3
Description:
Aldehyde dehydrogenase family 8 member A1 [Source:UniProtKB/Swiss-Prot;Acc:Q66I21]
Human Orthologue:
ALDH8A1
Human Description:
aldehyde dehydrogenase 8 family, member A1 [Source:HGNC Symbol;Acc:15471]
Mouse Orthologue:
Aldh8a1
Mouse Description:
aldehyde dehydrogenase 8 family, member A1 Gene [Source:MGI Symbol;Acc:MGI:2653900]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa3225 Nonsense F2 line generated During 2016
sa44022 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa3225
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000053399 Nonsense 315 487 6 7
Genomic Location (Zv9):
Chromosome 23 (position 31994747)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 31829637
KASP Assay ID:
554-2957.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCGTTTACCCAGAATTCCTCACTCGTTTTGTGGAGGCGACTCGTCGGTGG[A/T]AAACCGGGGTTCCTTCAGACCCCTCAAATGACAATGGAGCACTCATWAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44022
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000053399 Essential Splice Site 337 487 6 7
Genomic Location (Zv9):
Chromosome 23 (position 31994678)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 31829568
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACCCCTCAAATGACAATGGAGCACTCATTAGCAAAGAACATCTGCAGAAG[G/T]TACGGTTATAATCACACACGCAATCCTATTGATACTACATGCTATCTGTA
Associated Phenotype:
Not determined

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