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Col4a1deltaex40
Chemically induced Allele Detail
Summary
Symbol: Col4a1deltaex40
Name: collagen, type IV, alpha 1; delta exon 40
MGI ID: MGI:3579521
Synonyms: Col4a1deltaex41
Gene: Col4a1  Location: Chr8:11248423-11362826 bp, - strand  Genetic Position: Chr8, 5.53 cM
Alliance: Col4a1deltaex40 page
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
Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
 
ht2  Disease Model
 
ht3  Disease Model
involves: 129S/SvEv * C57BL/6J
 
involves: 129S/SvEv * C57BL/6J * CAST/EiJ
 
Phenotypes:
Affected Systems
show or hide all annotated terms
       
behavior/neurological
decreased grip strength
weakness
seizures
cardiovascular system
abnormal blood vessel morphology
abnormal retina vasculature morphology
abnormal retina blood vessel pattern
intracerebral hemorrhage
subarachnoid hemorrhage
cellular
abnormal basement membrane morphology
embryo
abnormal parietal endoderm morphology
abnormal Reichert's membrane morphology
growth/size/body
decreased body size
homeostasis/metabolism
increased circulating creatine kinase level
cyanosis
increased urine microalbumin level
mortality/aging
premature death
perinatal lethality, incomplete penetrance
embryonic lethality, complete penetrance
muscle
myopathy
nervous system
seizures
intracerebral hemorrhage
subarachnoid hemorrhage
enlarged brain ventricles
abnormal hippocampus morphology
abnormal cerebral cortex morphology
delaminated cerebral cortex
brain lesion
astrocytosis
abnormal brain pia mater morphology
abnormal retina ganglion cell morphology
optic nerve hypoplasia
renal/urinary system
increased urine microalbumin level
abnormal kidney morphology
reproductive system
reduced fertility
respiratory system
respiratory distress
vision/eye
abnormal eye morphology
optic nerve hypoplasia
microphthalmia
abnormal retina morphology
abnormal retina vasculature morphology
abnormal retina blood vessel pattern
abnormal retina inner limiting membrane morphology
abnormal retina neuronal layer morphology
abnormal retina ganglion cell morphology
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
disease model   expected model not found
Models:
Human Diseases
ht2
ht3
IDs
IDs
IDs
Expression
In Structures Affected by this Mutation: 20 anatomical structure(s)
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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Funding Information
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory

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