ZMP

pitx2

Ensembl ID:

ENSDARG00000036194

ZFIN ID:

ZDB-GENE-990714-27

Description:

Pituitary homeobox 2 [Source:UniProtKB/Swiss-Prot;Acc:Q9W5Z2]

Human Orthologue:

PITX2

Human Description:

paired-like homeodomain 2 [Source:HGNC Symbol;Acc:9005]

Mouse Orthologue:

Pitx2

Mouse Description:

paired-like homeodomain transcription factor 2 Gene [Source:MGI Symbol;Acc:MGI:109340]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa22522	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa22522

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

A > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000052569	Essential Splice Site	61	314	None	3
ENSDART00000148319	Essential Splice Site	16	269	None	4

The following transcripts of ENSDARG00000036194 do not overlap with this mutation:

ENSDART00000137652

Genomic Location (Zv9):

Chromosome 14 (position 37447856)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	35887183
GRCz11	14	36227497

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCCTCTGCAATTAAATATTTGTTTAAAAAGAGTGTTTCCTTTTGCATTAC[A/G]GAGAAAGAAAAGGGACAAAGTAAAAACGAAGATTCGAACGATGACCCGTC

Long Flanking Sequence:

TCATACCCTTTGACAGGACTTTATTTACTTAAATTGTTTGTGAAAATGTGGGCTTCACGAATGTTTACACAGTGGCAACTGCGCTTTGTACAGAATAGAGCAAACATTCCCAAACTACAATGTCATTGCTTTCGTGTGATAAAAAAATGCATGCTGCATTTATGGCGGTTAAAATATTTTCTAAATCCTGCATTAGCATTTGAACATTGAATTTTTACCGGTACTGTTGGCTTTGCCAGAAAAAAGGATGTTAGGATGTTAAAACGAGCGTTATAATAAATTTAATTCAGGAACATCATTAATTAAATTTCGCCCGTTAAATTGTTACCAGGGAACCAACTTGTTATGTTACCATGATGTCAAATATCTTCAATTCAATAAAAAGGAATTAGAGATTTGTCTCCCTCACGCACACTTCTCTAATGTGTCAAAACCGTGCCTGAAGCTTGTTCCTCTGCAATTAAATATTTGTTTAAAAAGAGTGTTTCCTTTTGCATTAC[A/G]GAGAAAGAAAAGGGACAAAGTAAAAACGAAGATTCGAACGATGACCCGTCGAAAAAGAAGAGACAAAGGCGGCAACGAACGCATTTTACTAGCCAGCAGTTACAGGAACTGGAGGCCACTTTTCAGAGGAATCGCTATCCGGACATGTCGACTAGAGAGGAGATCGCCGTTTGGACAAATTTAACAGAGGCCAGAGTCCGAGTAAGTTTGATAAATAAAATTACAAGAAAATAATATGTGATATAACCCTAAATATTTTTATAGTTTTTCTTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAATTAAATCTATTATTTACTATTAAAATTCAACATAGCCTATCAGCTTAATGCTGAATTAAACGTAACGTAATTTTAGTGCATATTTCATAGATCCACTAACAATAAAAATAAAGATATATTTCTGAAATATATATTTTTTTGCGTTGTTGTATGTGTTTTACA

Associated Phenotype:

Not determined