Col4a1<deltaex40> Chemically induced Allele Detail MGI Mouse (MGI:3579521)

Col4a1^deltaex40
Chemically induced Allele Detail

Summary

Symbol:	Col4a1^deltaex40
Name:	collagen, type IV, alpha 1; delta exon 40
MGI ID:	MGI:3579521
Synonyms:	Col4a1^deltaex41
Gene:	Col4a1 Location: Chr8:11248423-11362826 bp, - strand Genetic Position: Chr8, 5.53 cM
Alliance:	Col4a1^deltaex40 page

Mislocalization of retinal ganglion cells in Col4a1^deltaex40/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 details: A 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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:	78 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:	17 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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