Poli<d> Spontaneous Allele Detail MGI Mouse (MGI:3055735)

Poli^d
Spontaneous Allele Detail

Nomenclature

Symbol:	Poli^d
Name:	polymerase (DNA directed), iota; polymerase iota deficient
MGI ID:	MGI:3055735
Synonyms:	Poli^-
Gene:	Poli Location: Chr18:70668337-70689975 bp, - strand Genetic Position: Chr18, 44.0 cM, cytoband E2

Mutation
origin

Strain of Origin:

129

Mutation
description

Allele Type:	Spontaneous
Mutation:	Single point mutation
	A nonsense mutation changes codon 27 from serine (TCG) to an amber stop codon (TAG), and results in a truncated protein lacking any catalytic function. The allele was present in every 129 strain analyzed, including 129P3/J, 129X1/SvJ, 129P1/ReJ and 129P2/Ola. C57BL/6J mice did not contain the mutation. (J:85061)
Inheritance:	Not Specified

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 3 strains available Cell Lines: 0 lines available
Carrying any Poli Mutation:	10 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	cx2	cx3	cx4	cx5
immune system					√	N
immune system phenotype						N
abnormal B cell physiology					√
		hm1	cx2	cx3	cx4	cx5
tumorigenesis		N	√	√
tumorigenesis phenotype		N
increased incidence of induced tumors			√	√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Poli^d/Poli^d	B6.129-Poli^d
tumorigenesis tumorigenesis (J:115000) no difference in numbers of epithelial tumors induced by UV-B irradiation compared to wild-type mice
Genotype	Allelic Composition	Genetic Background
cx2	Polh^tm2Fmh/Polh^tm2Fmh Poli^d/Poli^d	B6.129-Polh^tm2Fmh Poli^d
tumorigenesis increased incidence of induced tumors (J:115000) tumors appear 4 weeks earlier and the average number of tumors is slightly but significantly increased compared to mice wild-type for Poli lung tumors, considered to be metastasis from skin tumors, were detected in 3 of 19 mice mesenchymal skin tumors are detected in some double mutant mice but not in mice wild-type for Poli
Genotype	Allelic Composition	Genetic Background
cx3	Polh^tm2Fmh/Polh^tm2Fmh Poli^d/Poli⁺	B6.129-Polh^tm2Fmh Poli^d
tumorigenesis increased incidence of induced tumors (J:115000) tumors appear 4 weeks earlier than in mice wild-type for Poli lung tumors, considered to be metastasis from skin tumors, were detected in 2 of 16 mice mesenchymal skin tumors are detected in some double mutant mice but not in mice wild-type for Poli
Genotype	Allelic Composition	Genetic Background
cx4	Polh^tm1Crey/Polh^tm1Crey Poli^d/Poli^d	involves: 129P2/OlaHsd * C57BL/6
immune system abnormal B cell physiology (J:98037) no B cell anomalies were observed Ig sequences from mutant mice PNA ^highB cells displayed the 85% G/C biased pattern mutation similar to that reported for XP-V patients
Genotype	Allelic Composition	Genetic Background
cx5	Poli^d/Poli^d Polk^tm1Hohm/Polk^tm1Hohm	involves: 129X1/SvJ * C57BL/6 * CBA
immune system immune system phenotype (J:105111) exhibit normal immunoglobulin gene somatic hypermutation and normal B and T cell populations

References

Original:	J:85061 McDonald JP et al., "129-derived strains of mice are deficient in DNA polymerase iota and have normal immunoglobulin hypermutation." J Exp Med 2003 Aug 18;198(4):635-43
All:	7 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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