Spi1^tm1Ram
Targeted Allele Detail

Summary

• Symbol: Spi1^tm1Ram
• Name: Spi-1 proto-oncogene; targeted mutation 1, Richard A Maki
• MGI ID: MGI:1927876
• Synonyms: PU.1 (-)
• Gene: Spi1 Location: Chr2:90912750-90946104 bp, + strand Genetic Position: Chr2, 50.44 cM, cytoband E3
• Alliance: Spi1^tm1Ram page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:36473
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Insertion of a neomycin gene into exon 5, which encodes the DNA binding domain. (J:36473)
• Inheritance: Recessive

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Spi1^tm1Ram/Spi1^tm1Ram	involves: 129S2/SvPas
hm2	Spi1^tm1Ram/Spi1^tm1Ram	involves: 129S2/SvPas * C57BL/6
ht3	Spi1^tm1Ram/Spi1^+	involves: 129S2/SvPas
cx4	Spi1^tm1Ram/Spi1^tm1Ram Tg(SOD1*G93A)1Gur/0	involves: 129S2/SvPas * C57BL/6 * SJL

Phenotypes:

Affected Systems	hm1	hm2	ht3	cx4
show or hide all annotated terms
cellular		√
abnormal neutrophil differentiation		√
abnormal macrophage differentiation		√
endocrine/exocrine glands		√
decreased thymocyte number		√
growth/size/body		√		N
growth/size/body region phenotype				N
postnatal growth retardation		√
hematopoietic system	√	√
abnormal neutrophil differentiation		√
abnormal macrophage differentiation		√
abnormal T cell differentiation		√
decreased neutrophil cell number		√
abnormal B cell number		√
absent mature B cells		√
abnormal T cell number		√
decreased thymocyte number		√
decreased double-positive T cell number		√
decreased CD4-positive, alpha-beta T cell number		√
decreased CD8-positive, alpha-beta T cell number		√
decreased macrophage cell number	√	√
abnormal microglial cell morphology		√
decreased spleen red pulp amount		√
homeostasis/metabolism	N
homeostasis/metabolism phenotype	N
immune system	√	√
abnormal neutrophil differentiation		√
abnormal macrophage differentiation		√
abnormal T cell differentiation		√
decreased double-positive T cell number		√
decreased neutrophil cell number		√
abnormal B cell number		√
absent mature B cells		√
abnormal T cell number		√
decreased thymocyte number		√
decreased CD4-positive, alpha-beta T cell number		√
decreased CD8-positive, alpha-beta T cell number		√
decreased macrophage cell number	√	√
abnormal microglial cell morphology		√
decreased spleen red pulp amount		√
sepsis		√
liver/biliary system		√
dark liver		√
mortality/aging		√		√
premature death		√		√
neonatal lethality, complete penetrance		√
nervous system		√		√
abnormal microglial cell morphology		√
abnormal astrocyte morphology		√
decreased motor neuron number				√
motor neuron degeneration				√
vision/eye	√		√
abnormal eye development	√		√
persistence of hyaloid vascular system	√		√

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Mice Carrying this Mutation:	40 assay results
In Structures Affected by this Mutation:	2 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 Spi1 Mutation: 28 strains or lines available

References

• Original: J:36473 McKercher SR, et al., Targeted disruption of the PU.1 gene results in multiple hematopoietic abnormalities. EMBO J. 1996 Oct 15;15(20):5647-58
• All: 23 reference(s)