Busch Lab

ZMP

ccm2

Ensembl ID:
ENSDARG00000013705
ZFIN ID:
ZDB-GENE-040712-6
Description:
Malcavernin [Source:UniProtKB/Swiss-Prot;Acc:Q6DRP4]
Human Orthologue:
CCM2
Human Description:
cerebral cavernous malformation 2 [Source:HGNC Symbol;Acc:21708]
Mouse Orthologue:
Ccm2
Mouse Description:
cerebral cavernous malformation 2 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:2384924]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa37000 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa37000
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
ENSDART00000003834 Essential Splice Site 70 455 3 10
Genomic Location (Zv9):
Chromosome 20 (position 18859165)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 18887422
GRCz11 20 18787005
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGTATTCTAGGAAGGCTCTATAATTAATAACATTGTTATTATTGTTGTA[G/A]TATCTGGGACAGCTGACCTCAGTTCCTGGATACCTGAATCCCTCCAGCCG
Long Flanking Sequence:
AACATTTTTAATGAATAGCCTAAGAAAGCATTTAGGTAGGTCCCACCACAACTTTTTTTTTGTCATAATTGTATATTACAAAAAATCCAAAATGCCTTCATACACATGATTTGAATGACTTGGTATGTGATCTATTTGCAGTTGTTATAAATGTTGGATTACCCTACAAGTTCAAAAAAGTTATTAATCCGTGGGTCACATGCGTTTCGAAGTGTGGGTTGTGATCCTATGGATTATGGATCAACCGTGATCAGTTACATCCCTAAATTCCACTGTTATGCTGCCGATACCCAAATCTATATCCACTTCTGTGATCCCTCCCATAGCTAGTTATTCAGTACTTCTCCCCTGGATGTTGATGCAATCTTTTAATGTGCCCTGTATTTTTTTGTGATTATTTATAAATTAATATTTTGTTTTTAATATTATTTTCTTGTTAACTGTGCTCAATTGTATTCTAGGAAGGCTCTATAATTAATAACATTGTTATTATTGTTGTA[G/A]TATCTGGGACAGCTGACCTCAGTTCCTGGATACCTGAATCCCTCCAGCCGCACTGAAGTTCTGCAGCTCATTGACAATGCCAGGGTAAGCTCGATACTCATAAACTGTTTTATTTTGCAACATGAGGATATGTTTTCACATTGGTTCTCTTATATCTTGTGCAGAAGTCTCATCAGTTGGCTGGGCAGCTGACCTCAGAGCAGGATGCTGTTGTCAGTTTATCAGCGTACAATGTGAAGCTTGTGTGGCGTGATGGAGAGGACATCATTCTGCGCGTACCCATCCACGACATTGCAGCTGTGTCCTACATCAGAGACGACTCGCTTCATCTAGTGGTGCTAAAAACAGGTATACGGTAATGAGGTCAATTAATGAGCATTAAATTAAACACAGTGGGTTCAAGATTTAGAGTGAAATATGTGAAAAATATGTAAAGGTTTGTATAATTTGTGTTTGCAGCTCAGGAGCCCGGAGGTTCCCCATGTCATAGTACAGAGATG
Associated Phenotype:
Not determined