Tfap2a<tm1Hsv> Targeted Allele Detail MGI Mouse (MGI:2183192)

Tfap2a^tm1Hsv
Targeted Allele Detail

Summary

Symbol:	Tfap2a^tm1Hsv
Name:	transcription factor AP-2, alpha; targeted mutation 1, Henry M Sucov
MGI ID:	MGI:2183192
Synonyms:	AP-2alpha^ki, AP-2alpha^ki7lacZ, Tcfap2a^ki7lacZ, Tcfap2a^tm1Hsv
Gene:	Tfap2a Location: Chr13:40868778-40891852 bp, - strand Genetic Position: Chr13, 20.01 cM, cytoband A5-B1
Alliance:	Tfap2a^tm1Hsv page

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:73813
Parent Cell Line:	CJ7 (ES Cell)
Strain of Origin:	129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation
description

Allele Type:		Targeted (Null/knockout, Reporter)
Mutation:		Insertion
		Mutation details: An IRES, lacZ and floxed neomycin resistance cassette were inserted into exon 7 via homologous recombination resulting in disruption of the DNA binding domain. The mutant transcript encodes the first 6 exons of the gene followed by the IRES-lacZ message. The pattern of lacZ expression in mutant animals is similar to that of the endogenous protein. (J:73813)

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
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hm1	Tfap2a^tm1Hsv/Tfap2a^tm1Hsv	involves: 129S1/Sv * Black Swiss
cn2	Tfap2a^tm1Hsv/Tfap2a^tm2Will Tfap2c^tm1Will/Tfap2c^tm2Will Tg(Zp3-cre)3Mrt/0	involves: 129S1/Sv * FVB/N
cn3	Tfap2a^tm1Hsv/Tfap2a^tm2Will H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	Not Specified

Phenotypes:

Affected Systems	hm1	cn2	cn3
show or hide all annotated terms
behavior/neurological			√
behavior/neurological phenotype			N
absent startle reflex			√
cardiovascular system	√		N
cardiovascular system phenotype			N
abnormal aortic arch development	√
persistent right dorsal aorta	√
retroesophageal right subclavian artery	√
double outlet right ventricle	√
ventricular septal defect	√
abnormal heart ventricle outflow tract morphology	√
pulmonary valve atresia	√
pulmonary valve stenosis	√
cellular			N
cellular phenotype			N
craniofacial	√		√
abnormal frontonasal suture morphology			√
abnormal neurocranium morphology			√
wide frontal bone			√
short frontal bone			√
small orbits			√
malocclusion			√
short maxilla			√
abnormal nasal bone morphology			√
broad nasal bone			√
short nasal bone			√
abnormal zygomatic bone morphology			√
abnormal incus morphology			√
abnormal malleus morphology			√
abnormal stapes morphology			√
abnormal craniofacial development	√
abnormal palatal shelf fusion at midline			√
abnormal facial skin morphology			√
abnormal periorbital skin morphology			√
short snout			√
digestive/alimentary system			√
abnormal palatal shelf fusion at midline			√
embryo	√	N	√
embryo phenotype		N
incomplete rostral neuropore closure			√
open neural tube	√		√
growth/size/body	√		√
malocclusion			√
abnormal nasal bone morphology			√
broad nasal bone			√
short nasal bone			√
abnormal palatal shelf fusion at midline			√
abnormal facial skin morphology			√
abnormal periorbital skin morphology			√
short snout			√
decreased body weight			√
abnormal ventral body wall morphology	√
hearing/vestibular/ear			√
abnormal incus morphology			√
abnormal malleus morphology			√
abnormal stapes morphology			√
integument			√
abnormal facial skin morphology			√
abnormal periorbital skin morphology			√
belly spot			√
abnormal foot pigmentation			√
abnormal tail pigmentation			√
limbs/digits/tail			√
abnormal tail pigmentation			√
mortality/aging		√	√
neonatal lethality, incomplete penetrance			√
embryonic lethality between implantation and somite formation, incomplete penetrance		√
nervous system	√		√
nervous system phenotype			N
incomplete rostral neuropore closure			√
open neural tube	√		√
anencephaly			√
exencephaly			√
pigmentation			√
belly spot			√
abnormal foot pigmentation			√
abnormal tail pigmentation			√
respiratory system			√
abnormal nasal bone morphology			√
broad nasal bone			√
short nasal bone			√
respiratory distress			√
skeleton			√
abnormal frontonasal suture morphology			√
abnormal neurocranium morphology			√
wide frontal bone			√
short frontal bone			√
small orbits			√
malocclusion			√
short maxilla			√
abnormal nasal bone morphology			√
broad nasal bone			√
short nasal bone			√
abnormal zygomatic bone morphology			√
abnormal incus morphology			√
abnormal malleus morphology			√
abnormal stapes morphology			√
vision/eye			√
small orbits			√

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

Expression

In Mice Carrying this Mutation:	39 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	24 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 Tfap2a Mutation:	39 strains or lines available

Notes

The authors indicate that removal of the neomycin cassette by Cre-mediated recombination does not alter gross morphology or lacZ expression pattern. (J:73813)

References

Original:	J:73813 Brewer S, et al., Requirement for AP-2alpha in cardiac outflow tract morphogenesis. Mech Dev. 2002 Jan;110(1-2):139-49
All:	15 reference(s)

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