Cbs<tm1Unc> Targeted Allele Detail MGI Mouse (MGI:1857139)

Cbs^tm1Unc
Targeted Allele Detail

Summary

Symbol:	Cbs^tm1Unc
Name:	cystathionine beta-synthase; targeted mutation 1, University of North Carolina
MGI ID:	MGI:1857139
Synonyms:	Cbs^-, CBS, CBS-
Gene:	Cbs Location: Chr17:31831602-31856170 bp, - strand Genetic Position: Chr17, 16.93 cM, cytoband A-C
Alliance:	Cbs^tm1Unc page

Abnormal hepatocyte morphology in Cbs^tm1Unc/Cbs⁺ and Cbs^tm1Unc/Cbs^tm1Unc mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:23321
Parent Cell Line:	BK4 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutations:		Insertion, Intragenic deletion
		Mutation details: A neomycin selection gene replaced a genomic fragment containing exons 3 and 4, which contains sequences encoding conserved residues thought to be required for protein activity. Northern blot analysis on mRNA derived from liver tissue of homozygous mice demonstrated that no stable transcript is produced from this allele. (J:23321)

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	9 assay results 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	32 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 3 strains available Cell Lines: 0 lines available
Carrying any Cbs Mutation:	40 strains or lines available

Notes

Homozygotes may serve as models of severe homocysteinemia and increase our understanding of the pathophysiology of CBS deficiency, while the apparently healthy heterozygotes will elucidate the role of moderately increased homocysteine levels on the etiology of cardiovascular diseases (J:23321).

References

Original:	J:23321 Watanabe M, et al., Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia. Proc Natl Acad Sci U S A. 1995 Feb 28;92(5):1585-9
All:	138 reference(s)

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