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Aspmem1Mama
Endonuclease-mediated Allele Detail
Summary
Symbol: Aspmem1Mama
Name: abnormal spindle microtubule assembly; endonuclease-mediated mutation 1, Marcos Malumbres
MGI ID: MGI:7661142
Synonyms: Aspm[h]
Gene: Aspm  Location: Chr1:139382510-139421829 bp, + strand  Genetic Position: Chr1, 61.45 cM, cytoband F
Alliance: Aspmem1Mama page
Mutation
origin
Strain of Origin:  (C57BL/6 x CBA)F2
Mutation
description
Allele Type:    Endonuclease-mediated (Hypomorph)
Mutation:    Intragenic deletion
 
Mutation detailsCRISPR/Cas9 technology generated a deletion in exon 3 upstream of the TGA codon. Homozygous mouse embryonic fibroblasts show reduced protein levels at the centrosome. (J:310617)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
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 Aspm Mutation:  138 strains or lines available
References
Original:  J:310617 Gonzalez-Martinez J, et al., Deficient adaptation to centrosome duplication defects in neural progenitors causes microcephaly and subcortical heterotopias. JCI Insight. 2021 Aug 23;6(16)
All:  1 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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last database update
10/22/2024
MGI 6.24
The Jackson Laboratory