fmr1

Ensembl ID:

ENSDARG00000037433

ZFIN ID:

ZDB-GENE-020731-6

Description:

fragile X mental retardation 1 [Source:RefSeq peptide;Acc:NP_694495]

Human Orthologue:

FMR1

Human Description:

fragile X mental retardation 1 [Source:HGNC Symbol;Acc:3775]

Mouse Orthologue:

Fmr1

Mouse Description:

fragile X mental retardation syndrome 1 homolog Gene [Source:MGI Symbol;Acc:MGI:95564]

Alleles

There are 6 alleles of this gene:

Mutation Details

Allele Name:

sa992

Current 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

Genomic Location (Zv9):

Chromosome 14 (position 21160395)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	19861883
GRCz11	14	20159128

KASP Assay ID:

554-0896.1 (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

AAGGTAAAATATATTCCCATATTTTATCACTATGCAGTTGGCAGCCAGAA[C/T]GACAGATTTCTTTCCAGGATGTTCGGTTTCCACCTCCAACCGGTTTTCAG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

hu2787

Current 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

Genomic Location (Zv9):

Chromosome 14 (position 21161310)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	19862798
GRCz11	14	20160043

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

ATGCAGCCTGTGATGCCACCCTAAATGAAATCGTCACATTAGAGAGGCTA[C/T]GACCTGTGAACCCCAACAAAGCAGCAACAAAGAACACCTTTCTCAAAACC

Associated Phenotype:

Normal

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

Mutation Details

Allele Name:

sa10402

Current 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
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Mutation:

T > A

Consequence:

Essential Splice Site

Genomic Location (Zv9):

Chromosome 14 (position 21161394)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	19862882
GRCz11	14	20160127

KASP Assay ID:

2260-7454.1 (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

ACACCTTTCTCAAAACCAGACTAGATGTWCCTGAAGACTTGAGACAGATG[T/A]AAGTTGGTAGCTTTTTCATTATTTTAGTGGGGATTCCTGCAGCATTGGAC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa19080

Current Status:

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

Availability:

We currently estimate that this allele will be available during 2018.

Mutation:

T > A

Consequence:

Essential Splice Site

Genomic Location (Zv9):

Chromosome 14 (position 21161394)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	19862882
GRCz11	14	20160127

KASP Assay ID:

2260-7454.1 (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

ACACCTTTCTCAAAACCAGACTAGATGTTCCTGAAGACTTGAGACAGATG[T/A]AAGTTGGTAGCTTTTTCATTATTTTAGTGGGGATTCCTGCAGCATTGGAC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

hu2898

Current Status:

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

Availability:

Unknown

Mutation:

A > G

Consequence:

Essential Splice Site

Genomic Location (Zv9):

Chromosome 14 (position 21169096)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	19870584
GRCz11	14	20167829

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

ATCAGAATATTAAAAACAGGTAAGATTCAAAATCTTGTTATATCTTCATC[A/G]GAGTTCTCGGCAGCTGGCCTCAAGGTTTCATGAACAGTTTGTGGTGCGGG

Associated Phenotype:

Normal

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

Mutation Details

Allele Name:

sa22461

Current 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

Mutation:

C > T

Consequence:

Nonsense

Genomic Location (Zv9):

Chromosome 14 (position 21177110)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	19878598
GRCz11	14	20175843

KASP Assay ID:

None (used for ordering genotyping assays from LGC Genomics)

KASP Sequence:

None

Flanking Sequence:

TCGATGAGCAGCTTAGACAGATCGGTGGAGGACCCAGAGCTTTGCCGGGA[C/T]GACCCGAGAAAGAAAAGTCTTTCATGGCTGATAATGGAATGGGACCCTCG

Associated Phenotype:

Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

• Antineutrophil cytoplasmic antibody-associated vasculitis : Genetically distinct subsets within ANCA-associated vasculitis. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

OMIM

• Fragile X syndrome
• Fragile X tremor/ataxia syndrome
• Premature ovarian failure 1

More OMIM information for FMR1

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