Ptpn6<me> Spontaneous Allele Detail MGI Mouse (MGI:1856073)

Ptpn6^me
Spontaneous Allele Detail

Summary

Symbol:	Ptpn6^me
Name:	protein tyrosine phosphatase, non-receptor type 6; motheaten
MGI ID:	MGI:1856073
Synonyms:	me, SHP-1 deficient
Gene:	Ptpn6 Location: Chr6:124697670-124715672 bp, - strand Genetic Position: Chr6, 59.17 cM
Alliance:	Ptpn6^me page

Mutation
origin

Strain of Origin:

C57BL/6J

Mutation
description

Allele Type:		Spontaneous
Mutation:		Intragenic deletion
		Mutation details: A single nucleotide (C) deletion at coding nucleotide position 228 (g.chr6:124732398Gdel on build GRCm38) creates a cryptic splice site. This results in the deletion of a 101bp segment in the encoded transcript, and a frameshift in the encoded protein. (J:11892, J:60297)
Inheritance:		Recessive

Phenotypes

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

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: 2 strains available Cell Lines: 0 lines available
Carrying any Ptpn6 Mutation:	49 strains or lines available

Notes

Genbank ID for this mutation: S63764

References

Original:	J:5579 Green MC, et al., Motheaten, an immunodeficient mutant of the mouse. I. Genetics and pathology. J Hered. 1975 Sep-Oct;66(5):250-8
All:	61 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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