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Col4a1deltaex40
Chemically induced Allele Detail
Nomenclature
Symbol: Col4a1deltaex40
Name: collagen, type IV, alpha 1; delta exon 40
MGI ID: MGI:3579521
Synonyms: Col4a1deltaex41
Gene: Col4a1  Location: Chr8:11198423-11312826 bp, - strand  Genetic Position: Chr8, 5.53 cM
Mislocalization of retinal ganglion cells in Col4a1deltaex40/Col4a1+ eyes

Show the 8 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:98572
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
Allele Type:    Chemically induced (other) (Not Applicable)
Mutation:    Nucleotide substitutions
 
Mutation detailsA G>A mutation in the splice acceptor site of exon 41 resulted in the direct splicing of exon 40 to exon 42 (exon numbering as in transcript model CCDS40219.1). (J:98572)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 23 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Col4a1 Mutation:  58 strains or lines available
References
Original:  J:98572 Gould DB, et al., Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science. 2005 May 20;308(5725):1167-71
All:  12 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory