ZMP

LOC100001366

Ensembl ID:

Human Orthologues:

MYH6, MYH7

Human Descriptions:

myosin, heavy chain 6, cardiac muscle, alpha [Source:HGNC Symbol;Acc:7576]
myosin, heavy chain 7, cardiac muscle, beta [Source:HGNC Symbol;Acc:7577]

Mouse Orthologues:

Myh6, Myh7

Mouse Descriptions:

myosin, heavy polypeptide 6, cardiac muscle, alpha Gene [Source:MGI Symbol;Acc:MGI:97255]
myosin, heavy polypeptide 7, cardiac muscle, beta Gene [Source:MGI Symbol;Acc:MGI:2155600]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa8514	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa37967	Nonsense	Mutation detected in F1 DNA	Not yet available
sa24571	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa8514

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 > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000135233	Essential Splice Site	1330	1942	26	37

Genomic Location (Zv9):

Chromosome 24 (position 42317586)

KASP Assay ID:

2261-9146.1 (used for ordering genotyping assays)

KASP Sequence:

ACACCCAGCAGATTGAGGACCTCAGGAGACAACTTGAGGAAGAAGTCAAG[G/A]TATATTTGATTTTTTTTTCTATTGTTCTGTTAGTATAACTTTTGTCAACA

Long Flanking Sequence:

CCAAAAATTAAGTGAACGAGTTTCATAACAGAGTGAGAACGCAGTGAATCGGTAAAATTGGTTGGGTTCAGGGAAAGAGGAGGGCGGTCAGCCGATTGGCCGGTCGTGCAGTCAATCATCCGGTCAGTCGGACAGCGGCCTCTGGCGGGTTGACGCGAGAACAGCGCGGGCGCAAACCGCACTCGCGAGAGGCGTTCAAGATGAGAAAAAAAATCACACAACAGCGGCCTCTTGCAGATTCGCAAAAACAAAAACTGCAGCCGTACGTACCCGCCGGGACGTATTCCGCAGTCTCTACAAACATCCGCGGGACTACGCTTCCACAATGAGCCTGGGTTGATATTTTCATTTCTTTGATACAATACAAATAATTCTATCTAGGGGAGCTTTCGAGACAGCTGGAAGAAAAAGATTCATTGGTCTCTCAGCTAACCAGAGGCAAGCAGTCCTACACCCAGCAGATTGAGGACCTCAGGAGACAACTTGAGGAAGAAGTCAAG[G/A]TATATTTGATTTTTTTTTCTATTGTTCTGTTAGTATAACTTTTGTCAACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAGATGCATTTCAATAAATTGTTTCAACCAAATATCCATTGCATTGCTGTGTGTATTCCTAACTGAAATATCCAATCCTCATAGGCAAAGAATGCCCTGGCCCATGCAGTTCAGTCTGCTCGTCATGATGCTGAATTGTTGAGGGAGCAATATGAAGAGGAGCAGGAAGCCAAAGCTGAGCTGCAGCGTAGTCTGTCCAAGGCAAACTCTGAAGTGGCTCAGTGGAGAACCAAGTATGAAACTGATGCCATCCAGAGGACTGAGGAGCTGGAGGATGCCAAGTAAGAAACAAGAAATTCAGTGTTCCCTGTACTTTGATTAAGCTAAAAACATCTTGTTCTATAGAAGAACATAAA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa37967

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:

A > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000135233	Nonsense	1440	1942	28	37

Genomic Location (Zv9):

Chromosome 24 (position 42316910)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	24	41035255
GRCz11	24	40735049

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CCAAGCACAGGCTCCAGAATGAGATTGAAGATCTTATGGTGGACGTGGAG[A/T]GATCCAATGCTGCTGCTGCTGCTCTGGACAAGAAGCAAAGAAACTTTGAC

Long Flanking Sequence:

ATATCCATTGCATTGCTGTGTGTATTCCTAACTGAAATATCCAATCCTCATAGGCAAAGAATGCCCTGGCCCATGCAGTTCAGTCTGCTCGTCATGATGCTGAATTGTTGAGGGAGCAATATGAAGAGGAGCAGGAAGCCAAAGCTGAGCTGCAGCGTAGTCTGTCCAAGGCAAACTCTGAAGTGGCTCAGTGGAGAACCAAGTATGAAACTGATGCCATCCAGAGGACTGAGGAGCTGGAGGATGCCAAGTAAGAAACAAGAAATTCAGTGTTCCCTGTACTTTGATTAAGCTAAAAACATCTTGTTCTATAGAAGAACATAAACCTTTAAAGTAGGTTTGAAACAATTTTTTTCCTTTGTTCATGAAGGAAGAAGCTGGCTCAGCGTCTGCAAGATGCAGAAGAGGCTGTGGAAGCTGTTAATGCTAAATGCTCCTCTCTGGAGAAGACCAAGCACAGGCTCCAGAATGAGATTGAAGATCTTATGGTGGACGTGGAG[A/T]GATCCAATGCTGCTGCTGCTGCTCTGGACAAGAAGCAAAGAAACTTTGACAAGGTGAATTAAACAAGCATTTCAAGAGTTCCCACTTAGATACGCTTGGCATATATAGCAGGTTTGGCATGCTGTCCTGGGAGAGAACCCTGAGCTCAGAGATATTTGAGCCCAGGGCTCCCGCCCGGTCTAGAAGCATATCAGGGGATCCGAGATCAGGTAGTTCTCGATCGCTCCCCCTTTAGAAAGGGAGAAAAAGGAGGAGATGGGGTGGAAGGGGGGATTCTTCCAAAAAGAAGATAGAGCAATAAGCAGAAAGTGATCCATTTATATTAAGCTAGGATCATTCTGATTGGATTATTACTGATTACGGATGAGTGGCCAGCAGTGCACAATCATATCACGTGCTCCTCTTGAAATTAGTTTGTAAAACTTCACTTATAAATGAACTTTCAGTATTCATCACAATCCACTGGTAGCTAATCAAAATCTGATTCTATATAACAGGTC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa24571

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:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000135233	Nonsense	1541	1942	30	37

Genomic Location (Zv9):

Chromosome 24 (position 42316060)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	24	41032148
GRCz11	24	40731942

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGTCTGGAAAGAACATACATGAACTGGAGAAAATCCGTAAGCAGTTGGAG[C/T]AGGAAAAGGCTGAAATTCAAACTGCTCTGGAGGAAGCTGAGGTGTGTATT

Long Flanking Sequence:

ATTACTGATTACGGATGAGTGGCCAGCAGTGCACAATCATATCACGTGCTCCTCTTGAAATTAGTTTGTAAAACTTCACTTATAAATGAACTTTCAGTATTCATCACAATCCACTGGTAGCTAATCAAAATCTGATTCTATATAACAGGTCCTAGCTGAGTGGAAGCAGAAGTATGAGGAGTCTCAGAGTGAGCTGGAAAGCTCCCAGAAGGAAGCCAGATCTCTGAGCACTGAACTGTTCAAGCTGAAGAACTCCTATGAGGAGTCTCTGGATCATTTGGAGAGCATGAAGAGAGAAAACAAGAACCTCCAAGGTTCCTCGATTTATTAGTCATCTAAGCAATCACATATTACTGAAATGAAATATTTCTCCTGGCTTTTCATGTACTAACCATCATTATATTTCTTAACCGGTAGAGGAGATAGCTGATCTTACTGAACAAATTGGTGAGTCTGGAAAGAACATACATGAACTGGAGAAAATCCGTAAGCAGTTGGAG[C/T]AGGAAAAGGCTGAAATTCAAACTGCTCTGGAGGAAGCTGAGGTGTGTATTGTGTAGTGTTCAACTTTCTTTCGCCAACAGATAATTGATATTCATGAGCTGAAAAAGTCTTGATTAAACATTTTCACCAACTGACAGGGCTCTCTTGAACACGAGGAAGGCAAGATCCTCAGAGCTCAACTAGAGTTCAATCAGGTCAAAGCTGACATTGAGCGTAAGCTGTCTGAGAAAGATGAAGAGATGGAGCAGGCCAAGAGGAACCAGCAGAGAATGATTGATACCCTGCAGAGCTCACTGGAATCAGAGACTCGCAGCAGGAATGAAGCTCTCAGACTGAAGAAGAAGATGGAGGGAGACCTCAATGAGATGGAGATTCAGCTCAGCCAGGCTAACAGGCAGGCATCAGAAGCCCAGAAGCAACTCAAGAGTCTTCATGGACATCTCAAAGTATGAAGTGTCTTCATATCAAGATCTTATGATCCCTAACCCTAAATTCAGAAT

Associated Phenotype:

Not determined