ZMP

spg11

Ensembl ID:

ENSDARG00000045968

ZFIN ID:

ZDB-GENE-101017-1

Description:

spatacsin isoform 1 [Source:RefSeq peptide;Acc:NP_001181923]

Human Orthologue:

SPG11

Human Description:

spastic paraplegia 11 (autosomal recessive) [Source:HGNC Symbol;Acc:11226]

Mouse Orthologue:

Spg11

Mouse Description:

spastic paraplegia 11 Gene [Source:MGI Symbol;Acc:MGI:2444989]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa32507	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa32507

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
ENSDART00000067558	Nonsense	917	1365	16	25

Genomic Location (Zv9):

Chromosome 25 (position 1146640)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	1014681
GRCz11	25	1099228

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGCTCCAGCTGCTGGTGGATCAGTGCAGCCACGGCAAGAGTTACTGCAAA[C/T]AAGTGCTGAGCCTCTACCAGCTCTCCAAGGTCAACACTGCTTTACTTCCT

Long Flanking Sequence:

GCATCATGCTAACACCAAGCTCTGACTCTTGATCTCTGTCTTTTTCTTCCTATTTGAAATCATTAGCTTAGCATCATGCTAACAGTGTATTTTTTCCCTTTTAATTCATTAGCATCATGCTAACACCAAGCTCTGACTCTTGATCTCTGTCTTTTTCTTCCTATTTGAAATCATTAGCTTAGCATCATGCTAACAGTGTATTTTTTCCCTTTTAATTCATTAGCATCATGCTAACACCAAGCTCTGACTCTTGATCTCTGTCTTTTTTTCTATTTGATATCATTAGCTTAGCATCATGCTAACATCATGCCCTGATCTTTGATCTATGCCTTGGATCATTAGCTTAGCATCATGCTAACATCGGGTGTGTGTGTGTGTGTTCAGCTCCCAGTATGAGCTCCCTGTCGTCGTTTGTGGTGGTGTCGTCTCCTGATGATCAGCTCCAGCTTCAGCTCCAGCTGCTGGTGGATCAGTGCAGCCACGGCAAGAGTTACTGCAAA[C/T]AAGTGCTGAGCCTCTACCAGCTCTCCAAGGTCAACACTGCTTTACTTCCTGCTGCTCGCTTACAATGCTGTCAAGGCATAAGAAACAACATCATGCATGCATCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTTGCATATGTCCATGTATTTGTAGGTATATGCATGTGTGCATGTGCATGCATGTGTATGTGTGTGCGTGTGAGTGTGTGCATGCATGTGTTGTTCGAGTGTGCATGTGTCTATGTACACCTTTGTATATATGTATGTGTGCGTGTGTGTGTGTCTGTGCGTGTTTGTGCATCGCCTTTGTATGTATATATGTATGCTTGCATGAGTCTGTGTAGTGTGTGGGTGTATCTAATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGCAGGAGCTGCAGTGCTCGTTCTCTGAGCTGTGGTCCTCTGAGCCGGAGTGTGTCCTGCAGAAGGTGCTTCTGTCTCGTCAGTCTGAGCGCTGTA

Associated Phenotype:

Not determined