Psen1<tm1Shn> Targeted Allele Detail MGI Mouse (MGI:1857974)

Psen1^tm1Shn
Targeted Allele Detail

Nomenclature

Symbol:	Psen1^tm1Shn
Name:	presenilin 1; targeted mutation 1, Jie Shen
MGI ID:	MGI:1857974
Synonyms:	PS1^-
Gene:	Psen1 Location: Chr12:85029513-85076149 bp, + strand Genetic Position: Chr12, 37.0 cM

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:40365
Parent Cell Line:	AB2.1 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1^b-m2

Mutation
description

Allele Type:	Targeted (knock-out)
Mutation:	Disruption caused by insertion of vector
	Exon 3 of the Psen1 gene, encoding the translation initiation codon, was deleted and replaced with a neomycin cassette. Northern blots of brain tissue from homozygous mutant mice showed a small amount of mutant Psen1 mRNA, smaller in size than wild-type Psen1. IP-Western blotting detected no C-terminal protein fragment in homozygous mutant mice. The authors conclude that this mutant is a null allele. (J:40365)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Psen1 Mutation:	17 strains or lines available

Expression

In Mice Carrying this Mutation:

83 assay results

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	hm2
cardiovascular system		√
intracranial hemorrhage		√
		hm1	hm2
cellular			√
abnormal apoptosis			√
		hm1	hm2
craniofacial		√
abnormal occipital bone morphology		√
		hm1	hm2
embryogenesis		√
abnormal rostral-caudal axis patterning		√
abnormal rostral-caudal patterning of the somites		√
		hm1	hm2
growth/size		√
abnormal postnatal growth/weight/body size		√
decreased body length		√
decreased body weight		√
		hm1	hm2
lethality/prenatal-perinatal		√
neonatal lethality		√
		hm1	hm2
limbs/digits/tail		√
abnormal hindlimb morphology		√
curly tail		√
kinked tail		√
short tail		√
		hm1	hm2
nervous system		√
intracranial hemorrhage		√
abnormal brain morphology		√
small telencephalic vesicles		√
dilated lateral ventricles		√
abnormal diencephalon morphology		√
abnormal third ventricle morphology		√
abnormal cerebral cortex morphology		√
abnormal temporal lobe morphology		√
abnormal hippocampus development		√
abnormal dentate gyrus morphology		√
abnormal lateral ganglionic eminence morphology		√
abnormal neurogenesis		√
decreased neuronal precursor cell number		√
neuron degeneration		√
		hm1	hm2
respiratory system		√
abnormal respiratory alveoli morphology		√
		hm1	hm2
skeleton		√
abnormal axial skeleton morphology		√
abnormal occipital bone morphology		√
abnormal rib morphology		√
abnormal rib-vertebral column attachment		√
decreased rib number		√
rib fusion		√
abnormal sternum morphology		√
short sternum		√
abnormal spine curvature		√
vertebral fusion		√
cervical vertebral fusion		√
lumbar vertebral fusion		√
sacral vertebral fusion		√
abnormal osteogenesis		√
		hm1	hm2
skin/coat/nails		√
loose skin		√

		hm1	hm2
Disease Models		√
Alzheimer Disease 3		√
Alzheimer Disease; AD		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

hm1 Disease Model

Psen1^tm1Shn/Psen1^tm1Shn

involves: 129S7/SvEvBrd * C57BL/6

hm2

Psen1^tm1Shn/Psen1^tm1Shn

Not Specified

Disease
models

Mouse Models of Human Disease	Note	Genotype			Ref(s)
			Allelic Composition	Genetic Background
Models with phenotypic similarity to human diseases associated with human PSEN1.
Alzheimer Disease 3 OMIM ID: 607822		hm1	Psen1^tm1Shn/Psen1^tm1Shn	involves: 129S7/SvEvBrd * C57BL/6	J:40365
Models with phenotypic similarity to human diseases not associated with human PSEN1.
Alzheimer Disease; AD OMIM ID: 104300		hm1	Psen1^tm1Shn/Psen1^tm1Shn	involves: 129S7/SvEvBrd * C57BL/6	J:40365

References

Original:	J:40365 Shen J et al., "Skeletal and CNS defects in Presenilin-1-deficient mice." Cell 1997 May 16;89(4):629-39
All:	11 reference(s)

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