Version: 7.5.0
Date: Fri Dec 13 2024
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Acan
m1Btlr
MGI:6760644
Allele of
Acan
Mus musculus
Summary
Transgenic Constructs
Genomic Variant Information
Variant Molecular Consequences
Phenotypes
Disease Associations
Allele/Variant
Acan
m1Btlr
Species
Mus musculus
Symbol
Acan
m1Btlr
Category
allele
Allele of gene
Acan
Transgenic Constructs
None
Synonyms
Acan
ex5+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
Show All 3
HGVS.c name
ENSEMBL:ENSMUST00000032835.1:c.757+2T>G
RefSeq:NM_001361500.1:c.757+2T>G
Show All 3
HGVS.p name
Synonyms
Not Available
Notes
changes splice donor G-GT in intron 5 to G-GG
Cross references
MGI:6760644
References
PMID:33905568
All alleles with this variant
Download Variants Data
Genome location
Chr7:78703231...78764847
+ (61.62 kb)
Assembly version
GRCm39
Viewer Help
78.71M
78.72M
78.73M
78.74M
78.75M
78.76M
Variant Types and Consequences
Only 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
Show all details
Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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Phenotypes
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Annotation details
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References
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short femur
View
Name
Type
Experimental condition
Modifier
References
Acan
m1Btlr
/Acan
+
[background:] C57BL/6J-Acan
m1Btlr
/Btlr
genotype
PMID:33905568
MGI
PMID:33905568
short tibia
View
Name
Type
Experimental condition
Modifier
References
Acan
m1Btlr
/Acan
+
[background:] C57BL/6J-Acan
m1Btlr
/Btlr
genotype
PMID:33905568
MGI
PMID:33905568
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Disease Associations
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