Adamtsl2<stb> Spontaneous Allele Detail MGI Mouse (MGI:1857056)

Adamtsl2^stb
Spontaneous Allele Detail

Summary

Symbol:	Adamtsl2^stb
Name:	ADAMTS-like 2; stubby
MGI ID:	MGI:1857056
Gene:	Adamtsl2 Location: Chr2:26969391-26998993 bp, + strand Genetic Position: Chr2, Syntenic
Alliance:	Adamtsl2^stb page

Mutation
origin

Strain of Origin:

Not Specified

Mutation
description

Allele Type:		Spontaneous (Null/knockout)
Mutation:		Single point mutation
		Mutation details: The molecular lesion is a nonsense mutation comprised of a G to A substitution (c.2241G>A) in exon 15 of the gene. The nonsense mutation introduces a premature termination codon within the tryptophan codon at amino acid residue position 747 (p.W747) within the encoded fifth thrombospondin type 1 motif. (J:345919*)
Inheritance:		Recessive

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: 0 strains available Cell Lines: 0 lines available
Carrying any Adamtsl2 Mutation:	33 strains or lines available

References

Original:	J:64250 Lane PW, stb - stubby. Mouse News Lett. 1965;32:46
All:	5 reference(s)

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