ZMP

Ensembl ID:

ZFIN ID:

Description:

fibrocystin-L isoform 1 [Source:RefSeq peptide;Acc:NP_001123871]

Human Orthologue:

PKHD1L1

Human Description:

polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 [Source:HGNC Symbol;Acc:20313]

Mouse Orthologue:

Pkhd1l1

Mouse Description:

polycystic kidney and hepatic disease 1-like 1 Gene [Source:MGI Symbol;Acc:MGI:2183153]

Allele Name:

sa23518

Status:

Available for shipment
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Availability:

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Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000050456	Nonsense	495	3895	15	70
ENSDART00000124987	Nonsense	521	4201	16	76

The following transcripts of ENSDARG00000040004 do not overlap with this mutation:

• ENSDART00000138809

Genomic Location (Zv9):

Chromosome 19 (position 23433211)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	23362626
GRCz11	19	22946949

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa1501

Status:

Available for shipment
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Availability:

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Mutation:

G > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000050456	Nonsense	2408	3895	44	70
ENSDART00000124987	Nonsense	2595	4201	48	76

The following transcripts of ENSDARG00000040004 do not overlap with this mutation:

• ENSDART00000138809

Genomic Location (Zv9):

Chromosome 19 (position 23465556)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	23394971
GRCz11	19	22979294

KASP Assay ID:

554-1426.1 (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Stage	Entity	Quality	Tag
Larval:Day 5 ZFS:0000037	whole organism ZFA:0001094	quality PATO:0000001	normal PATO:0000461

Allele Name:

sa14766

Status:

Available for shipment
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Availability:

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Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000050456	None	None	3895	None	70
ENSDART00000124987	Nonsense	2853	4201	50	76

The following transcripts of ENSDARG00000040004 do not overlap with this mutation:

• ENSDART00000138809

Genomic Location (Zv9):

Chromosome 19 (position 23467103)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	23396518
GRCz11	19	22980841

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa23519

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000050456	Nonsense	2953	3895	52	70
ENSDART00000124987	Nonsense	3244	4201	58	76

The following transcripts of ENSDARG00000040004 do not overlap with this mutation:

• ENSDART00000138809

Genomic Location (Zv9):

Chromosome 19 (position 23471523)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	23400938
GRCz11	19	22985261

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa23520

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000050456	Nonsense	3366	3895	62	70
ENSDART00000124987	Nonsense	3672	4201	68	76

The following transcripts of ENSDARG00000040004 do not overlap with this mutation:

• ENSDART00000138809

Genomic Location (Zv9):

Chromosome 19 (position 23476559)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	23405974
GRCz11	19	22990297

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa10779

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000050456	Nonsense	3477	3895	64	70
ENSDART00000124987	Nonsense	3783	4201	70	76

The following transcripts of ENSDARG00000040004 do not overlap with this mutation:

• ENSDART00000138809

Genomic Location (Zv9):

Chromosome 19 (position 23479498)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	23408913
GRCz11	19	22993236

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype: