Traf6^tm1Mak
Targeted Allele Detail

Summary

• Symbol: Traf6^tm1Mak
• Name: TNF receptor-associated factor 6; targeted mutation 1, Tak Mak
• MGI ID: MGI:1859953
• Synonyms: TRAF6^-
• Gene: Traf6 Location: Chr2:101508774-101532014 bp, + strand Genetic Position: Chr2, 53.9 cM
• Alliance: Traf6^tm1Mak page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:54467
• Parent Cell Line: E14K (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: The insertion of a neomycin selection cassette disrupted the exon encoding the translation initiation codon and the first 100 residues, which constitute the amino terminal portion of the zinc RING finger domain. Western blot analysis of renal immunoprecipitates and total renal lysates showed an absence of protein in homozygous mutant mice. (J:54467)

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	Traf6^tm1Mak/Traf6^tm1Mak	involves: 129P3/J

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
cardiovascular system	√
enlarged heart	√
cellular	√
decreased B cell proliferation	√
craniofacial	√
absent incisors	√
absent molars	√
failure of tooth eruption	√
growth/size/body	√
enlarged heart	√
absent incisors	√
absent molars	√
failure of tooth eruption	√
decreased body weight	√
decreased body length	√
enlarged liver	√
enlarged spleen	√
hematopoietic system	√
decreased B cell proliferation	√
enlarged spleen	√
hypochromic anemia	√
abnormal osteoclast morphology	√
abnormal macrophage physiology	√
abnormal osteoclast physiology	√
homeostasis/metabolism	√
decreased circulating phosphate level	√
immune system	√
decreased B cell proliferation	√
enlarged spleen	√
abnormal osteoclast morphology	√
abnormal macrophage physiology	√
abnormal osteoclast physiology	√
decreased tumor necrosis factor secretion	√
limbs/digits/tail	√
short femur	√
liver/biliary system	√
enlarged liver	√
mortality/aging	√
decreased survivor rate	√
perinatal lethality, incomplete penetrance	√
postnatal lethality, incomplete penetrance	√
skeleton	√
absent incisors	√
absent molars	√
failure of tooth eruption	√
abnormal osteoclast morphology	√
abnormal osteoclast physiology	√
abnormal long bone morphology	√
abnormal long bone metaphysis morphology	√
decreased length of long bones	√
short femur	√
increased bone mineral density	√
osteopetrosis	√
decreased bone resorption	√

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

Expression

In Mice Carrying this Mutation:	41 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 Traf6 Mutation: 34 strains or lines available

References

• Original: J:54467 Lomaga MA, et al., TRAF6 deficiency results in osteopetrosis and defective interleukin-1, CD40, and LPS signaling. Genes Dev. 1999 Apr 15;13(8):1015-24
• All: 12 reference(s)