Del(1)1Brk
Spontaneous Allele Detail

Summary

• Symbol: Del(1)1Brk
• Name: deletion, Chr 1, Jane Barker 1
• MGI ID: MGI:3608909
• Synonyms: Del1Brk, nm1054, Steap3^nm1054
• 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 details: This 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

Disease models

Expression

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	11 anatomical structure(s)

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)