ZMP

cftr

Ensembl ID:

ENSDARG00000041107

ZFIN ID:

ZDB-GENE-050517-20

Description:

cystic fibrosis transmembrane conductance regulator [Source:RefSeq peptide;Acc:NP_001038348]

Human Orthologue:

CFTR

Human Description:

cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) [S

Mouse Orthologue:

Cftr

Mouse Description:

cystic fibrosis transmembrane conductance regulator homolog Gene [Source:MGI Symbol;Acc:MGI:88388]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa39198	Nonsense	Mutation detected in F1 DNA	Not yet available
sa23289	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa39198

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:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000060243	Nonsense	932	1485	17	27

Genomic Location (Zv9):

Chromosome 18 (position 20483650)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	20713873
GRCz11	18	20702939

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGACTCCCACAAGCAGCTATTACATTCTCTACATATATGTGGCCACGTCA[G/T]AGAGCCTCCTCGCGATGGGATTTTTCAGAGGTCTTCCGTTTGTACACACA

Long Flanking Sequence:

AATGTGTTGCATTTTAAAATATAAAACAATAGAAAACTGGTCAATTATAATAATATTTAACAAAAATATGCCTTTTTATTACAGTATATTTTGTCAGATAAATGCAGTATCAGTGAACACAAGACAAACCAGAAATGTTACATCTAACCTACTTTTGAACAGTAGTGTAATACATTTAATAATTTAACCAATCTTAATTTATTTTGTTTTTTAGATTGCAGGATCTGTAGCAGGGATTTTTCTGATAACCGAGTAAGTTTTTCTTCTTATAGTACCTTGATTGCCCTTTACTTGTCAAGCATTCTTCATTAACAGAGTGAAATGTTGTTTTAATCACTAAATACTTTCATGCTTCCAGTGAACTTTGGAGAGAGGAACATCAACGATCTGAGCCAAACATGACAAAGCACTCCAACGCGTCTTCATCTGGACAAACATATGCCATCACTGTGACTCCCACAAGCAGCTATTACATTCTCTACATATATGTGGCCACGTCA[G/T]AGAGCCTCCTCGCGATGGGATTTTTCAGAGGTCTTCCGTTTGTACACACAACCATCACCATCTCCAAAAAACTGCACCAGAAGATGCTACATGCTGTTCTCAGTGCTCCCATGTCTGTACTCAACACTATGAAGACAGGTTAGTCAGTACTTAGGACTGAAATGATCAAGGTAAAACTTGCTTCACAGGTGTGGTTTTTGACGTAATACTTTACTGTTTATATTGTTTTTGCAGGCCGAATCATGAATAGATTCACCAAAGATATGGCCACAATAGACGACATGCTTCCTCTCCTCATGTTTGACTTTGTCCAGGTTTGTGAATCCTTTAATAAACTTTAGGAATGATAATGTAGTGTTTAAAAGTGAGTACATGGGTTTTAGCTTTCTCAGTCATGCAATCTACCAGTTTGCACTGCAAAAAATAAAAATAAAAAAGTCGCTGGCTCGAGCCTTGTCTGGGTCAGTTGGCATTTCTGTGTGGAGTTTGCATGTTCTCCG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa23289

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:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000060243	Nonsense	1220	1485	22	27

Genomic Location (Zv9):

Chromosome 18 (position 20494954)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	20725177
GRCz11	18	20714243

KASP Assay ID:

2261-2124.1 (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGCTGGCCACACCGCGGTCAGATCGAAGTGAGGAATTTAACAGTCAAATA[C/A]ACAGAAGCGGGTCACGCTGTCCTCAAAAACCTGTCCTTCAGTGCGGAGGG

Long Flanking Sequence:

ATTTTTTCTTAATAATTTAAGATTACTGATATTTAAAATATTATTGTGGATTTTTGTAGTAGAGGATCTTAACAAACTTGTGAGATTTGAATACTCGCATGCTTTTTAAAAGTCATTTTTGGATATGGGACAGCAGTTTGCACCAGTTTAGTAAAATGGCCCGTATAGCGTGGCGGTGCCTTCTTTTTGCCACATTGTGTAACTGTGTGCACATACGCAGATACACGCAAACACTGAGGCTAAGCATCATTTAAAGGCTAAACAAACCACATGCAGATTAGACCTCAGTGGACCTGAATTACATCATGGCTCCTCTAATCCTTCTTCCTCCAGATGCGTTCGGTTGACCGGGTGTTTAAGTTCATTGACCTTCCATCTGAGACGCCCAAACCAGACAAAGGCAAAGACTCAGATCTGATTATTGAGAACGTCGATGCACAGGCTGACTCGAGCTGGCCACACCGCGGTCAGATCGAAGTGAGGAATTTAACAGTCAAATA[C/A]ACAGAAGCGGGTCACGCTGTCCTCAAAAACCTGTCCTTCAGTGCGGAGGGGAGACAGAGGGTATGTATAAAGCAATTCACAGAATGAAAATAAAAACACACATGTAAATTGTTCTTCAAACTGTGCAATTTGTGAAAGGGTTCATATTTATGCCTTAGATCAATGTTCTTAAACTCAATTCCTGGAAGGCCACAGCTCTGCATAGTTTATCCCCAACCACCTCCAACTCACACCTGCTTAATAATCATTAGAGTTGGAGCAAAACTGTGCACAGCTGCGGCCCTCCAGGAATCCAGTTTGAGACCTGTACCTTAGATTGTTATGGGCTAATGCTGGAGTTTCACTTATTTAAAAGTGGCATCAAAGAATCAAAAATCAATAATAGTAATGAAAGAATAACACACTTCTTAAAAATACTTGAATTTCAGACATTCAGATTAAAACGCTGGAAAGTACTTAAAAACAAACACACTGGAGGTCCTTACAAATGCTTGAATTAA

Associated Phenotype:

Not determined