ZMP

Ensembl ID:

ZFIN ID:

Description:

Bardet-Biedl syndrome 4 [Source:RefSeq peptide;Acc:NP_001070934]

Human Orthologue:

BBS4

Human Description:

Bardet-Biedl syndrome 4 [Source:HGNC Symbol;Acc:969]

Mouse Orthologue:

Bbs4

Mouse Description:

Bardet-Biedl syndrome 4 (human) Gene [Source:MGI Symbol;Acc:MGI:2143311]

Allele Name:

sa258

Status:

F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000092919	Nonsense	160	359	8	16
ENSDART00000122929	Nonsense	160	528	8	16

The following transcripts of ENSDARG00000063522 do not overlap with this mutation:

• ENSDART00000139517

Genomic Location (Zv9):

Chromosome 25 (position 2624919)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	2532310
GRCz11	25	2685700

KASP Assay ID:

554-2691.1 (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa11279

Status:

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

Availability:

Order Allele From ZIRC
Order Allele From EZRC

Mutation:

T > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000092919	Nonsense	298	359	12	16
ENSDART00000122929	Nonsense	298	528	12	16

The following transcripts of ENSDARG00000063522 do not overlap with this mutation:

• ENSDART00000139517

Genomic Location (Zv9):

Chromosome 25 (position 2636410)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	2543801
GRCz11	25	2697191

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype: