Spta1<sph-ha> Spontaneous Allele Detail MGI Mouse (MGI:1856181)

Spta1^sph-ha
Spontaneous Allele Detail

Summary

Symbol:	Spta1^sph-ha
Name:	spectrin alpha, erythrocytic 1; hemolytic anemia
MGI ID:	MGI:1856181
Synonyms:	ha, sph^1J, Sph-J
Gene:	Spta1 Location: Chr1:174000342-174076016 bp, + strand Genetic Position: Chr1, 80.97 cM
Alliance:	Spta1^sph-ha page

Mutation
origin

Strain of Origin:

DBA/1J

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: The mutation in the sph-ha mouse (also known as sph-J) was identified as a C-to-A transversion in exon 52 that converts a tyrosine 2403 to a stop codon (p.Y2403). This mutation truncates the protein by 13 amino acids. (J:81125*)
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: 2 strains available Cell Lines: 0 lines available
Carrying any Spta1 Mutation:	147 strains or lines available

References

Original:	J:24729 Bernstein S, New mutant: Hemolytic anemia - ha. Mouse News Lett. 1960;23:33
All:	18 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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