Allele/Variant

Acanm1Btlr

Species
Mus musculus
Symbol
Acanm1Btlr
Category
allele
Allele of gene
Acan
Transgenic Constructs
None
Synonyms
  • Acanex5+2
Description
ENU mutagenesis induced a point mutation (chr7:78738055T>G (GRCm39)), changing splice donor G-GT in intron 5 to G-GG.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000073.7:g.78738055T>G

Symbol
NC_000073.7:g.78738055T>G
Category
Variant
Variant type
point mutation
Overlaps
Acan
Location
7:78738055
Nucleotide Change
T>G
Most Severe Consequence
  • splice donor variant
See all consequences
HGVS.g name
  • (GRCm39)7:78738055T>G
  • NC_000073.7:g.78738055T>G
HGVS.c name
  • ENSEMBL:ENSMUST00000032835.1:c.757+2T>G
  • RefSeq:NM_001361500.1:c.757+2T>G
HGVS.p name
Synonyms
Not Available
Notes
  • changes splice donor G-GT in intron 5 to G-GG
Cross references
MGI:6760644
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
78.71M78.72M78.73M78.74M78.75M78.76M
Variant Types and ConsequencesOnly variants associated to alleles are shown in the graphics above. See all variants in JBrowse.

Variant Molecular Consequences

Predicted effect of NC_000073.7:g.78738055T>G

Variant
NC_000073.7:g.78738055T>G
Variant type:
point_mutation
Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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    Phenotypes

    Phenotype
    Annotation details
    Source
    References
    short femur
    MGI
    short tibia
    MGI
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    Disease Associations