ZMP

LOC100329907

Ensembl ID:

ENSDARG00000075896

Human Orthologue:

ARX

Human Description:

aristaless related homeobox [Source:HGNC Symbol;Acc:18060]

Mouse Orthologue:

Arx

Mouse Description:

aristaless related homeobox Gene [Source:MGI Symbol;Acc:MGI:1097716]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa30329	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa38150	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa30329

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000113329	Essential Splice Site	42	409	1	7

Genomic Location (Zv9):

Chromosome Zv9_scaffold3460 (position 3340)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	40653052
GRCz11	21	40676099

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TACTGCATCGACAGCATTCTAGGAAGGAAAAGTCCCTTAAAAGTTCAAGG[T/C]AAGTCGCTCGTTCTTTAATCTGTTGTTTTTACAGTATATTGTTCACGGAA

Long Flanking Sequence:

TATTTTTATGCAATTACTATTATTATTGTTATAATATTTAGATTTAAGCCTTGTATTTCCTTATACTATTAGGATATTAATATTATAAAATTATCAATATTAAAATTCTGAAGTAGTTTAAGAAGAAGTTTAAGCTGAACTGTGAATAAATAAAGTTAGCACTGCCAATTTAAGCGACAGTCTCTTTAAAGCACTCAGACTGAGGTAGAGCCTTTCCCTGGAGAACCAATCAGAAGCTGTTAGCTGAGTTTTGGAAGCCGAAGCATCTGTACAAAGGTAGACGCGCGCGTTCTTGTGCAGCGATCAGTCAGCGAGAGCTCGAGGACGCGCGCCGGATGGATCACTGCTTTCTGAAGCCTTCATAAAGCCAGAGATATGAGCAGCGAAGTAGAAGAGGATAATCCAGAACAAACCAACTGCAGATGTAAAACACCCACTCTATTGTCCTCGTACTGCATCGACAGCATTCTAGGAAGGAAAAGTCCCTTAAAAGTTCAAGG[T/C]AAGTCGCTCGTTCTTTAATCTGTTGTTTTTACAGTATATTGTTCACGGAATTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAGTGTCCATATAACCAGCATTGCCATTTACTTATTTAATTAAATCAACTATAATAAGTAAATAATAAACCATCATTTACTCAACCTTCACTTGTCACAAACCTGTTTGAGTTTATTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCAGTTTTTATTTTTATATTTTGTTTGTTTGTTAAACACATAAAAATTTCCCCTTGGAACACGATGGCTATAATATGTCCGATATAAAACACTCTTGAAACTACTTAAGGGTGGGTA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa38150

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

T > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000113329	Nonsense	194	409	4	7

Genomic Location (Zv9):

Chromosome Zv9_scaffold3460 (position 4561)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	40651885
GRCz11	21	40674932

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGGATGTTGAAACGAAAACAGAGGAGATACCGGACAACATTTACCAGCTA[T/G]CAGCTTGAGGAGCTGGAACGAGCCTTTCAAAAGACTCACTACCCAGATGT

Long Flanking Sequence:

TAGATTCAGTTTGGTCTTTTGAATAATATTCTATTAAATAAAATTAGTTTTATATATCTTAGTTTGTTTTTTCAATAATCATTCAGATTTATATATTTTTTTCTTACAGAAACACCACACAGTTTGTGGCCCCTTCATCCACACATGCACCTGCCGCCGAAGCTCCGCCGCCCCTTCGCCCCGCTGACAGACTCCTCCACAGACGAAACAGCGGGCCCGAGACTGCTCCAAACAGCCTGTGAAAAATTAAAAATTACAGAAGCATCGATTGTCAACATTAGTCGTGCTGGATCGTACCAAGAACACGCGTCCTGCAAAAACACGCCAATAAACGAGGAAGAAGGAGCTGATATTTGCGGAGAGACAAATGTGACTCTAAAGCAAGAACGAGAGGCTTTTTTAAAGAACAGCGAGGAAACTTCCTTGTCCGCGGGAAGTGACACTGAAGATGGGATGTTGAAACGAAAACAGAGGAGATACCGGACAACATTTACCAGCTA[T/G]CAGCTTGAGGAGCTGGAACGAGCCTTTCAAAAGACTCACTACCCAGATGTGTTCACAAGGTAAACGAACCAAAAGAATTTCAAAATTGTGGAGTCAAACAGTGTACGGTGCAATCCGTGAAATCTTCATTTAATTAAAAAAATAATTAATAATCTTTATTAGAAATTAAAACGAACTGAATTAGATTTAAAAATAAAATACAATAAATATGAAATATGAAATAATAATATCTATATGATAAATGATCTTATTACCTTGTATTTTATTTGTAGGCTAATAATTATTATATATTAAGCCCTGCAAGTTTTTCGATTTTATTATTATTGGTGTTATTATTTTAATTACGCATTTGGGCTATTTTATTTATCTTTATTTTGCATTAATTTCAAAAGCCACTTTATCTGATTAAACAGATTTAATAATCATTATGTGTGATGGAAAGAATATTATGTTAATAAAAAATATTTTTGACTGAACAGCATATAGACTCAGGCTCAGCA

Associated Phenotype:

Not determined