Allele/Variant

Col4a1ENU4004

Species
Mus musculus
Symbol
Col4a1ENU4004
Category
allele
Allele of gene
Col4a1
Transgenic Constructs
None
Synonyms
  • Col4a1G394V
Description
Male mice were exposed to 80 mg/kg body weight of ENU. This resulted in a G to T nucleotide substitution a position 1312 (NCBI accession # NM_009931) which caused a Glycine to Valine substitution at amino acid residue 394.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Phenotype
Annotation details
Source
References
anterior polar cataract
MGI
decreased erythrocyte cell number
MGI
decreased hematocrit
MGI
decreased hemoglobin content
MGI
eye hemorrhage
MGI
lens vacuoles
MGI
lethality throughout fetal growth and development, complete penetrance
MGI
total cataract
MGI
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Disease Associations

No data available