Rxra<tm2Ipc> Targeted Allele Detail MGI Mouse (MGI:2136274)

Rxra^tm2Ipc
Targeted Allele Detail

Summary

Symbol:	Rxra^tm2Ipc
Name:	retinoid X receptor alpha; targeted mutation 2, Pierre Chambon
MGI ID:	MGI:2136274
Synonyms:	RXR-alpha-
Gene:	Rxra Location: Chr2:27566452-27652969 bp, + strand Genetic Position: Chr2, 19.38 cM
Alliance:	Rxra^tm2Ipc page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:20550
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129/Sv

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutations:		Insertion, Intragenic deletion
		Mutation details: Replacement of exon 4 with a PGK-Neo cassette. Western analysis using a polyclonal antibody directed against the N-terminus failed to detect the protein in homozygous mutant animals. (J:20550)

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)

	Allelic Composition	Genetic Background
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hm1	Rxra^tm2Ipc/Rxra^tm2Ipc	involves: 129
ht2	Rxra^tm2Ipc/Rxra⁺	involves: 129
ht3	Rxra^tm2Ipc/Rxra^tm4.1Ipc	involves: 129
ht4	Rxra^tm1Ipc/Rxra^tm2Ipc	involves: 129S2/SvPas * C57BL/6
cn5	Rxra^tm2Ipc/Rxra^tm4Ipc Tg(KRT14-cre)1Ipc/0	involves: 129S2/SvPas * C57BL/6 * SJL
cx6	Rarg^tm4Ipc/Rarg^tm4Ipc Rxra^tm2Ipc/Rxra^tm2Ipc	involves: 129
cx7	Rarg^tm2Ipc/Rarg^tm2Ipc Rxra^tm2Ipc/Rxra^tm2Ipc	involves: 129/Sv * 129S2/SvPas
cx8	Rxra^tm2Ipc/Rxra^tm2Ipc Rxrb^tm1Mma/Rxrb^tm1Mma	involves: 129/Sv * C57BL/6

Phenotypes:

Affected Systems	hm1	ht2	ht3	ht4	cn5	cx6	cx7	cx8
show or hide all annotated terms
cardiovascular system	√		√					√
abnormal cardiovascular system morphology	√
absent third pharyngeal arch artery								√
abnormal vasculogenesis			√
cellular					√
increased keratinocyte proliferation					√
craniofacial								√
absent third pharyngeal arch artery								√
third pharyngeal arch hypoplasia								√
embryo	√							√
embryo phenotype								N
absent third pharyngeal arch artery								√
third pharyngeal arch hypoplasia								√
increased rhombomere 5 size								√
abnormal extraembryonic tissue morphology	√
growth/size/body		√			√
dermal cyst					√
abnormal postnatal growth/weight/body size		√
hearing/vestibular/ear								√
abnormal otic vesicle development								√
hematopoietic system					√
abnormal Langerhans cell morphology					√
homeostasis/metabolism			√
edema			√
immune system					√
abnormal Langerhans cell morphology					√
skin inflammation					√
integument			√		√
increased keratinocyte proliferation					√
skin inflammation					√
diluted coat color					√
abnormal hair growth					√
alopecia					√
delayed hair appearance					√
thin hypodermis					√
abnormal hair follicle morphology					√
abnormal hair follicle melanin granule distribution					√
disorganized outer root sheath cells					√
abnormal piliary canal morphology					√
dilated piliary canal					√
distorted hair follicle pattern					√
hair follicle degeneration					√
abnormal hair cycle anagen phase					√
abnormal hair cycle telogen phase					√
abnormal skin morphology					√
dermal cyst					√
thick dermal layer					√
hyperkeratosis					√
thick epidermis suprabasal layer					√
pallor			√
scaly skin					√
skin lesions					√
mortality/aging	√		√
prenatal lethality	√
lethality throughout fetal growth and development, complete penetrance			√
nervous system								√
increased rhombomere 5 size								√
pigmentation					√
diluted coat color					√
abnormal melanosome morphology					√
abnormal hair follicle melanin granule distribution					√
respiratory system	√
abnormal cricoid cartilage morphology	√
skeleton	√
abnormal cricoid cartilage morphology	√
vision/eye	√		√	√		√	√
abnormal eye morphology	√
abnormal anterior eye segment morphology						√	√
abnormal eye development			√	√

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

Expression

In Mice Carrying this Mutation:	27 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: 0 strains available Cell Lines: 0 lines available
Carrying any Rxra Mutation:	30 strains or lines available

Notes

Two ES cell lines were used: D3 and H1

References

Original:	J:20550 Kastner P, et al., Genetic analysis of RXR alpha developmental function: convergence of RXR and RAR signaling pathways in heart and eye morphogenesis. Cell. 1994 Sep 23;78(6):987-1003
All:	16 reference(s)

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