Psap<tm2Suz> Targeted Allele Detail MGI Mouse (MGI:2183897)

Psap^tm2Suz
Targeted Allele Detail

Summary

Symbol:	Psap^tm2Suz
Name:	prosaposin; targeted mutation 2, Kunihiko Suzuki
MGI ID:	MGI:2183897
Synonyms:	saposin A^-
Gene:	Psap Location: Chr10:60113449-60138376 bp, + strand Genetic Position: Chr10, 30.02 cM
Alliance:	Psap^tm2Suz page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:78223
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129S/SvEv

Mutation
description

Allele Type:		Targeted (Not Specified)
Mutation:		Nucleotide substitutions
		Mutation details: An amino acid substitution was introduced into the saposin A domain of the gene utilizing a Cre/loxP system. Specifically, the mutation was introduced into exon 4 of the gene, changing the fourth cysteine in the saposin A domain to phenylalanine (C106F). This resulted in the loss of one of three conserved disulfide bonds within the protein. Animals carrying this allele produced stable mRNA of normal length. (J:78223)

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: 1 strain available Cell Lines: 0 lines available
Carrying any Psap Mutation:	36 strains or lines available

References

Original:	J:78223 Matsuda J, et al., A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse. Hum Mol Genet. 2001 May 15;10(11):1191-9
All:	7 reference(s)

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