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Date: Fri Dec 13 2024
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Lrp5
m2Btlr
MGI:6760633
Allele of
Lrp5
Mus musculus
Summary
Transgenic Constructs
Genomic Variant Information
Variant Molecular Consequences
Phenotypes
Disease Associations
Allele/Variant
Lrp5
m2Btlr
Species
Mus musculus
Symbol
Lrp5
m2Btlr
Category
allele
Allele of gene
Lrp5
Transgenic Constructs
None
Synonyms
Lrp5
ex12+1
Description
ENU mutagenesis induced a point mutation (chr19:3662197C>A (GRCm39)), changing splice donor C-GT in intron 12 to C-TT.
Additional Information
Literature
Transgenic Constructs
No data available
Genomic Variant Information
NC_000085.7:g.3662197C>A
Symbol
NC_000085.7:g.3662197C>A
Category
Variant
Variant type
point mutation
Overlaps
Lrp5
Location
19:3662197
Nucleotide Change
C>A
Most Severe Consequence
splice donor variant
See all consequences
HGVS.g name
(GRCm39)19:3662197C>A
19:g.3662197C>A
Show All 3
HGVS.c name
ENSEMBL:ENSMUST00000025856.1:c.2824+1G>T
ENSEMBL:ENSMUST00000177294.1:c.649+1G>T
Show All 4
HGVS.p name
Synonyms
Not Available
Notes
changes splice donor C-GT in intron 12 to C-TT.
Cross references
MGI:6760633
References
PMID:33905568
All alleles with this variant
Download Variants Data
Genome location
Chr19:3634828...3736564
- (101.74 kb)
Assembly version
GRCm39
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3.64M
3.65M
3.66M
3.67M
3.68M
3.69M
3.70M
3.71M
3.72M
3.73M
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_000085.7:g.3662197C>A
Variant
NC_000085.7:g.3662197C>A
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
Source
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References
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decreased bone mineral density
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Name
Type
Experimental condition
Modifier
References
Lrp5
m2Btlr
/Lrp5
+
[background:] C57BL/6J-Lrp5
m2Btlr
/Btlr
genotype
PMID:33905568
MGI
PMID:33905568
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Disease Associations
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