Rara^tm2Ipc
Targeted Allele Detail

Summary

• Symbol: Rara^tm2Ipc
• Name: retinoic acid receptor, alpha; targeted mutation 2, Pierre Chambon
• MGI ID: MGI:1857867
• Synonyms: Raralpha1, RaRalpha1-
• Gene: Rara Location: Chr11:98818644-98865768 bp, + strand Genetic Position: Chr11, 62.76 cM, cytoband D-E1
• Alliance: Rara^tm2Ipc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:13574
• Parent Cell Line: D3 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Insertion of a neomycin cassette into exon 3. This disruption selectively prevents the synthesis of the alpha 1 isoform. RNAase protection analysis indicated that the mRNA encoding the alpha 1 isoform was mutated in this allele, and the alpha 2 isoform was transcribed normally. (J:13574)

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	Cell Line(s)
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hm1	Rara^tm2Ipc/Rara^tm2Ipc	involves: 129S2/SvPas
cx2	Rara^tm2Ipc/Rara^tm2Ipc Rarb^tm1Ipc/Rarb^tm1Ipc	involves: 129S2/SvPas
cx3	Rara^tm2Ipc/Rara^tm2Ipc Rarg^tm1Ipc/Rarg^tm1Ipc	involves: 129S2/SvPas
cx4	Rara^tm2Ipc/Rara^tm2Ipc Rara^tm1Ipc/Rara^+ Rarg^tm1Ipc/Rarg^tm1Ipc	involves: 129S2/SvPas
cx5	Rara^tm1Ipc/Rara^tm2Ipc Rarg^tm1Ipc/Rarg^+	involves: 129S2/SvPas

Phenotypes:

Affected Systems	hm1	cx2		cx3	cx4	cx5
show or hide all annotated terms Sex:
cardiovascular system		√	√		√	√
abnormal cardiovascular system morphology		√	√		√
persistent right dorsal aorta		√	√		√
abnormal fourth pharyngeal arch artery morphology		√	√		√
abnormal sixth pharyngeal arch artery morphology		√	√
double outlet right ventricle					√
abnormal interventricular septum membranous part morphology					√
perimembraneous ventricular septal defect		√	√
abnormal aortic valve morphology					√
intracerebral hemorrhage						√
craniofacial		√	√	√	√	√
craniofacial phenotype		N	N
abnormal fourth pharyngeal arch artery morphology		√	√		√
abnormal sixth pharyngeal arch artery morphology		√	√
abnormal neurocranium morphology				√		√
basisphenoid bone foramen						√
short frontal bone						√
fusion of atlas and occipital bones				√		√
abnormal alisphenoid bone morphology		√	√			√
abnormal presphenoid bone morphology						√
abnormal upper incisor morphology						√
absent upper incisors						√
abnormal incus morphology		√	√			√
abnormal incus short process morphology		√	√			√
midline cleft upper lip						√
cleft palate						√
abnormal nasal septum cartilage morphology						√
shortened head						√
digestive/alimentary system				√		√
cleft palate						√
abnormal sublingual duct morphology				√		√
absent sublingual duct						√
short sublingual duct				√		√
absent sublingual gland						√
abnormal submandibular gland morphology						√
abnormal submandibular duct morphology				√
embryo		√	√		√
abnormal fourth pharyngeal arch artery morphology		√	√		√
abnormal sixth pharyngeal arch artery morphology		√	√
rudimentary Mullerian ducts		√	√
endocrine/exocrine glands		√	√	√	√	√
abnormal sublingual duct morphology				√		√
absent sublingual duct						√
short sublingual duct				√		√
absent sublingual gland						√
abnormal submandibular gland morphology						√
abnormal submandibular duct morphology				√
ectopic parathyroid gland		√	√		√
abnormal lacrimal gland development				√
abnormal Harderian gland development				√
absent Harderian gland						√
growth/size/body						√
abnormal upper incisor morphology						√
absent upper incisors						√
midline cleft upper lip						√
cleft palate						√
abnormal nasal septum cartilage morphology						√
shortened head						√
hearing/vestibular/ear		√	√			√
abnormal incus morphology		√	√			√
abnormal incus short process morphology		√	√			√
mortality/aging		√	√	√	√
perinatal lethality				√	√
neonatal lethality, complete penetrance		√	√	√
nervous system						√
intracerebral hemorrhage						√
abnormal brain morphology						√
abnormal folding of telencephalic vesicles						√
abnormal lateral ventricle morphology						√
abnormal brain commissure morphology						√
abnormal cerebral hemisphere morphology						√
absent cerebellum						√
absent hindbrain						√
abnormal meninges morphology						√
renal/urinary system		√	√		√
renal glomerulus hypertrophy		√	√
absent nephrogenic zone		√	√
hydronephrosis		√	√
renal hypoplasia		√	√		√
abnormal renal tubule morphology		√	√
ectopic kidney		√	√
abnormal ureter morphology		√	√
ectopic ureter		√	√
hydroureter		√	√
reproductive system		√
abnormal female reproductive system morphology		√
absent uterus		√
absent cranial vagina		√
respiratory system		√	√	√	√	√
abnormal respiratory system morphology		√	√		√
abnormal nasal septum cartilage morphology						√
abnormal arytenoid cartilage morphology					√
abnormal cricoid cartilage morphology					√
abnormal thyroid cartilage morphology		√	√
small thyroid cartilage					√
fused bronchial cartilage rings				√	√
abnormal tracheal cartilage morphology		√	√
cricoid and tracheal cartilage fusion		√	√	√	√
absent tracheal cartilage rings				√	√
skeleton		√	√	√	√	√
abnormal skeleton morphology		√	√	√		√
abnormal neurocranium morphology				√		√
basisphenoid bone foramen						√
short frontal bone						√
abnormal alisphenoid bone morphology		√	√			√
abnormal presphenoid bone morphology						√
abnormal upper incisor morphology						√
absent upper incisors						√
abnormal incus morphology		√	√			√
abnormal incus short process morphology		√	√			√
abnormal nasal septum cartilage morphology						√
abnormal arytenoid cartilage morphology					√
abnormal cricoid cartilage morphology					√
cricoid and tracheal cartilage fusion		√	√	√	√
abnormal thyroid cartilage morphology		√	√
small thyroid cartilage					√
abnormal tracheal cartilage morphology		√	√
absent tracheal cartilage rings				√	√
abnormal sternum morphology				√		√
rib fusion				√		√
abnormal cervical vertebrae morphology				√		√
abnormal cervical atlas morphology				√		√
fusion of atlas and occipital bones				√		√
abnormal cervical axis morphology				√		√
cervical vertebral transformation				√		√
ectopic cartilage		√	√
vision/eye		√	√	√		√
abnormal lacrimal gland development				√
corneal-lenticular stalk						√
failure of eyelid fusion						√
persistent hyperplastic primary vitreous		√	√
absent nasolacrimal duct				√		√
normal phenotype	√
no abnormal phenotype detected	√

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

Expression

In Mice Carrying this Mutation:

6 assay results

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 Rara Mutation: 79 strains or lines available

References

• Original: J:13574 Lufkin T, et al., High postnatal lethality and testis degeneration in retinoic acid receptor alpha mutant mice. Proc Natl Acad Sci U S A. 1993 Aug 1;90(15):7225-9
• All: 5 reference(s)