ZMP

mitfb

Ensembl ID:

ENSDARG00000037833

ZFIN ID:

ZDB-GENE-010919-1

Description:

microphthalmia-associated transcription factor [Source:RefSeq peptide;Acc:NP_571922]

Human Orthologue:

MITF

Human Description:

microphthalmia-associated transcription factor [Source:HGNC Symbol;Acc:7105]

Mouse Orthologue:

Mitf

Mouse Description:

microphthalmia-associated transcription factor Gene [Source:MGI Symbol;Acc:MGI:104554]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa11609	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa11609

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000010248	Nonsense	92	499	2	10

Genomic Location (Zv9):

Chromosome 23 (position 758726)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	728061
GRCz11	23	740854

KASP Assay ID:

2261-7209.1 (used for ordering genotyping assays)

KASP Sequence:

CGGCAGATCTCCATCACACACAGCCCCGCCATCAAYGTCAGCCATCCCTG[C/A]GGCCCGCCCAGCGCCGCACAGGTGCCCATGGAGGTGCTGAAGGTAAAGCA

Long Flanking Sequence:

GGATTGTCTCCAGAACAAACCACTGTTATACAATGACTTGCCTAATTACCCTAACTTTACCCTAATTACCCTAGTGAAGCCTTTACATGTCACTGTAAGCTGAACACTAGTGTCTTGAAGAACATCTAGTCTAATATTATGTGCTGTCATCATGATGAAGAGAAAACACATCAGCTATTAGAGATAAGTTATTAACACTGTTATGATTAGAAATGTGCTGAATAAATCTGCTCTCAGTTAAACAGAAATTGGGAGAAATATATACAGAGGGGCTAATAATTGAGACTTCAACTGTATGTAACGTCCTCTGTGTTTGTGTGTGTGTGCAGTAATCCCTCAGAGCAGCAGCATGGCTCCTGTAAGCCCCCGCTGGGCTCGTCTCGAGTCCTGCTCCGCCAGCAGCTGATGCGTGAGCAGCTCCAGCAGCAGGAGCGCCGAGAGCAGCAGAAGCGGCAGATCTCCATCACACACAGCCCCGCCATCAACGTCAGCCATCCCTG[C/A]GGCCCGCCCAGCGCCGCACAGGTGCCCATGGAGGTGCTGAAGGTAAAGCAGCGCGCAGAAAGCTCATATCAAAGCACGTGTGAAATCAAAACTAGCCATAGTGATGTTGTGAGCTCACATTGCTAGTCCTGCGCTGAACAGTTCATCTGTGCATGTCATTAAGAACAAAACAATAGTTTGCCTCTGTAATCGAATATTGAAATCTGCAAATGCACTTCCTGTTTGAGGTCAGTTCAATTCTCAGGTCAGTCTGAGATAGTGGGCGGGGCTAACACACTTAACCACGCCCCTCCAGCTGTCAGTATGACATCAAACAGAAATGGTGAGCTGGAGGACTCTCTCCAAACACTTTTCCGCATCTTTCTGAATGACACGCCTACTTTACTGCATCCAATCAGCTCACAGTAGAATCAAACAAGCCACGCCCACTGCTTTCACATTTAGTATTGTGAAACTGCATCACAATATGAAAAAAATGGTCGCAGCTTCCAGTTCATGTG

Associated Phenotype:

Not determined