ZMP

pdha1a

Ensembl ID:

ENSDARG00000012387

ZFIN ID:

ZDB-GENE-040426-2719

Description:

pyruvate dehydrogenase E1 alpha 1 [Source:RefSeq peptide;Acc:NP_998558]

Human Orthologues:

PDHA1, PDHA2

Human Descriptions:

pyruvate dehydrogenase (lipoamide) alpha 1 [Source:HGNC Symbol;Acc:8806]
pyruvate dehydrogenase (lipoamide) alpha 2 [Source:HGNC Symbol;Acc:8807]

Mouse Orthologues:

Pdha1, Pdha2

Mouse Descriptions:

pyruvate dehydrogenase E1 alpha 1 Gene [Source:MGI Symbol;Acc:MGI:97532]
pyruvate dehydrogenase E1 alpha 2 Gene [Source:MGI Symbol;Acc:MGI:97533]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa20403	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa20403

Status:

Available for shipment
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Availability:

Order Allele From ZIRC

Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000023784	Nonsense	69	393	3	11

Genomic Location (Zv9):

Chromosome 5 (position 25708478)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	23535743
GRCz11	5	24039543

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCCCAGCAGTGCAGGCAGTGCTAACCAGAGAAGAAGGCCTTCAATACTAC[C/T]GAACAATGCAGACCATGAGGCGCATGGAGCTCAAAGCTGATCAGCTGTAC

Long Flanking Sequence:

TATCATAAAGTATATTATTTTTCTGATTTGACTTATCAACAGTTATCAGTAGTACCTATGAGTGTTTGACAAGATTTTGTAATAAATTTGCATCATTACATGCATTGATACAAACTAAAGGTCTACAGAATACTTGACAATTTGTATTAGTTTATAATGATGGTCATACTGAGCTACTATTTGGGTATAACCAAGAAAATTAAGCACTTTTACTTAAGTTAAACAAAAAGCAGTACTTTCCACTTTTACTGGAGTAATATTTTATTAGGCTATCAGCACATTCAAATACAAAATGATTTTTGTAATTCAATGCATCACAGTGTTTTATTTATATTACATTTTTTATTATAAATTGTAAAGTAATGAGCATCTTATTGTATCATCATGTATTTGAAAGCATGAAAATGTGCTTGTTCTTGTAGAAATGTGACGTGCACAAGCTGGAAGAGGGCCCAGCAGTGCAGGCAGTGCTAACCAGAGAAGAAGGCCTTCAATACTAC[C/T]GAACAATGCAGACCATGAGGCGCATGGAGCTCAAAGCTGATCAGCTGTACAAGCAGAAGATCATCAGGGGCTTCTGTCACCTTTATGATGGACAGGTGACAAACACATTGCAAACAAAGTGATTTCATCATTACGAGTAGTTCAACATTATTCAAATTTCTTATTTAAATGTCTAAAGTGGGGTGACATGGAGGCGCAGTGGGTAGCACTGTTGCCTCACAGCAAGAAGGTCGCTGGTTCGACACTCGGCTGGGTCAGTTGGCATTTCTTTGTGGAGTTTGCATGTTCTCCTCTTGTTGGTGTGGGTTTCCTCCGGGTGCTCTGGTTTCCCCCACAAGTCCAAAGACATGCGCTATGAGTGAATTGAATAAACTAAATTGGCCGTAGTGTATGTGTGCGAATAAGAGTGCATGGGTGTTTCCCAGTGATGGTTGCAGCTGGAAGGGCATCCGCTGCATAAAACATAAAAAATAAAGAGACTAAAAGCCTGTTTCACACCG

Associated Phenotype:

Not determined