Hax1^tm1.1Gach
Targeted Allele Detail

Summary

• Symbol: Hax1^tm1.1Gach
• Name: HCLS1 associated X-1; targeted mutation 1.1, Gernot Achatz
• MGI ID: MGI:5056144
• Gene: Hax1 Location: Chr3:89902753-89906023 bp, - strand Genetic Position: Chr3, 39.19 cM, cytoband F2
• Alliance: Hax1^tm1.1Gach page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:174159
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A floxed neomycin resistance cassette was inserted in intron 1 and a third loxP site was placed in intron 3. Transient transfection of properly targeted ES cells with a cre expressing vector results in excision of both the selection cassette and exons 2 and 3. No protein was detectable in bone marrow-derived cells or other tissues. (J:174159)

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)
Loading...
hm1	Hax1^tm1.1Gach/Hax1^tm1.1Gach	involves: BALB/c

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
behavior/neurological	√
impaired coordination	√
endocrine/exocrine glands	√
thymus hypoplasia	√
decreased thymocyte number	√
growth/size/body	√
decreased body size	√
decreased body weight	√
postnatal growth retardation	√
hematopoietic system	√
thymus hypoplasia	√
decreased bone marrow cell number	√
decreased hematopoietic stem cell number	√
abnormal lymphocyte morphology	√
decreased pro-B cell number	√
abnormal B cell number	√
increased follicular B cell number	√
decreased B cell number	√
decreased immature B cell number	√
decreased transitional stage T1 B cell number	√
decreased transitional stage T2 B cell number	√
decreased mature B cell number	√
decreased B-1a cell number	√
decreased marginal zone B cell number	√
decreased pre-B cell number	√
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	√
spleen hypoplasia	√
decreased IgG2a level	√
immune system	√
thymus hypoplasia	√
abnormal lymphocyte morphology	√
decreased pro-B cell number	√
abnormal B cell number	√
increased follicular B cell number	√
decreased B cell number	√
decreased immature B cell number	√
decreased transitional stage T1 B cell number	√
decreased transitional stage T2 B cell number	√
decreased mature B cell number	√
decreased B-1a cell number	√
decreased marginal zone B cell number	√
decreased pre-B cell number	√
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	√
spleen hypoplasia	√
decreased IgG2a level	√
mortality/aging	√
premature death	√
skeleton	√
fragile skeleton	√

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

Expression

In Structures Affected by this Mutation:

4 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 Hax1 Mutation: 36 strains or lines available

References

• Original: J:174159 Peckl-Schmid D, et al., HAX1 deficiency: impact on lymphopoiesis and B-cell development. Eur J Immunol. 2010 Nov;40(11):3161-72
• All: 1 reference(s)