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Del(1)1Brk
Spontaneous Allele Detail
Nomenclature
Symbol: Del(1)1Brk
Name: deletion, Chr 1, Jane Barker 1
MGI ID: MGI:3608909
Synonyms: Del1Brk, nm1054, Steap3nm1054
Gene: Del(1)1Brk  Location: unknown  Genetic Position: Chr1, Syntenic
Mutation
origin
Strain of Origin:  CBA/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intergenic deletion
  Del(1)1Brk involves 4 genes/genome features (Sctr, Dbi, 3110009E18Rik ...) View all
 
Mutation detailsThis spontaneous deletion comprises approximately 400 kb and removes all or part of six genes at about 63.1-64.1 cM on Chr 1. (J:103440)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 assay results
In Structures Affected by this Mutation: 10 anatomical structures
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 Del(1)1Brk Mutation:  1 strain or line available
Notes
A transgene comprising the bacterial artificial chromosome (BAC) RPCI-22 11D19, containing Steap3 and C1ql2, restored normal hemoglobin levels in mice homozygous for the deletion. Three overlapping BAC transgenes encompassing the rest of the deletion region failed to affect the phenotype, as did a truncated transgene derived from RPCI-22 11D19 that contained only C2ql2. J:103440

The anemia phenotype of the homozygous mice is recapitulated by a targeted mutation of Steap3, which also fails to complement the deletion in trans. The phenotype of the complex heterozygote is described above. J:103440

References
Original:  J:100202 Ohgami RS, et al., nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse. Blood. 2005 Nov 15;106(10):3625-31
All:  9 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
09/22/2022
MGI 6.21
The Jackson Laboratory