Chd7^Gt(XK403)Byg
Gene trapped Allele Detail

Summary

• Symbol: Chd7^Gt(XK403)Byg
• Name: chromodomain helicase DNA binding protein 7; gene trap XK403, BayGenomics
• MGI ID: MGI:4127559
• Synonyms: Chd7^gt, Chd7^xk, Chd7^xk403
• Gene: Chd7 Location: Chr4:8690406-8867659 bp, + strand Genetic Position: Chr4, 3.68 cM
• Alliance: Chd7^Gt(XK403)Byg page

Pharyngeal arch artery patterning defects in Chd7^Whi/Chd7⁺, Chd7^Gt(XK403)Byg/Chd7⁺ and Chd7^Gt(XK403)Byg/Chd7⁺ Tbx1^tm1Bld/Tbx1⁺ embryos

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Mutant Cell Line: XK403
• Germline Transmission: Earliest citation of germline transmission: J:154590
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Gene trapped (Null/knockout, Reporter)
• Mutation: Insertion of gene trap vector Vector: pGT0Lxf Vector Type: gene trap
• Mutation details: The gene trap vector containing a beta-geo cassette with a floxed splice acceptor inserted into intron 36. Cre mediated recombination of the splice acceptor can restore expression. (J:154590)
• Sequence Tags: Sequence tag details (1 tag)

  Tag ID	GenBank ID	Method	Tag Location (trapped strand)*	Select
  XK403	CC248927 ; (MGI Seq Detail)	5' RACE	Chr4:8863915-8864046 bp (+)
  * GRCm39; (strand of gene trap mutagenesis)

• Genome Context: Genome Browser view of this mutation;

  25 gene trap insertions have trapped this gene; View all gene trap sequence tags in this region

Chd7^{Gt(RRR136)Byg} and Chd7^Gt(XK403)Byg gene trap constructs

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	Chd7^Gt(XK403)Byg/Chd7^Gt(XK403)Byg	involves: 129P2/OlaHsd * C57BL/6
ht2	Chd7^Gt(XK403)Byg/Chd7^+	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * CD-1)
ht3	Chd7^Gt(XK403)Byg/Chd7^+	involves: 129P2/OlaHsd * C57BL/6
ht4  Disease Model	Chd7^Gt(XK403)Byg/Chd7^+	involves: 129P2/OlaHsd * C57BL/6 * DBA/2
ht5	Chd7^Gt(XK403)Byg/Chd7^+	involves: 129P2/OlaHsd * C57BL/6J
cn6	Chd7^Gt(XK403)Byg/Chd7^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	either: (involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * CBA/J) or (involves: 129P2/OlaHsd * C57BL/6J * CBA/J * CD-1)
cn7	Chd7^Gt(XK403)Byg/Chd7^+ Mesp1^tm2(cre)Ysa/Mesp1^+	either: (involves: 129P2/OlaHsd * C57BL/6 * CBA) or (involves: 129P2/OlaHsd * C57BL/6 * CBA * CD-1)
cn8	Chd7^Gt(XK403)Byg/Chd7^+ Tfap2a^tm1(cre)Moon/Tfap2a^+	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * CD-1)
cn9	Chd7^Gt(XK403)Byg/Chd7^+ Tg(Tbx1-cre)1Joe/0	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * CD-1)
cx10	Chd7^Gt(XK403)Byg/Chd7^+ Tbx1^tm1Bld/Tbx1^+	either: (involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6) or (involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * CD-1)
cx11	Chd7^Gt(XK403)Byg/Chd7^+ Fgf8^tm1.2Mrt/Fgf8^+	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * CD-1)
cx12	Chd7^Gt(XK403)Byg/Chd7^+ Fgf8^tm2Mrt/Fgf8^+	involves: 129 * 129P2/OlaHsd * C57BL/6J * DBA/2J

Phenotypes:

Affected Systems	hm1	ht2	ht3	ht4	ht5	cn6	cn7	cn8	cn9	cx10	cx11	cx12
show or hide all annotated terms
behavior/neurological			√
circling			√
cardiovascular system		√	√			√	√		√	√	√
abnormal pharyngeal arch artery morphology			√
abnormal fourth pharyngeal arch artery morphology		√	√			√	√		√		√
absent fourth pharyngeal arch artery										√
abnormal sixth pharyngeal arch artery morphology			√				√		√
abnormal pulmonary trunk morphology			√
interrupted aortic arch										√
interrupted aortic arch, type b			√
aorta coarctation			√
abnormal subclavian artery morphology			√							√
abnormal cardiac outflow tract development			√
cellular			√
abnormal neural crest cell migration			√
craniofacial		√	√			√	√		√	√	√
abnormal pharyngeal arch artery morphology			√
abnormal fourth pharyngeal arch artery morphology		√	√			√	√		√		√
absent fourth pharyngeal arch artery										√
abnormal sixth pharyngeal arch artery morphology			√				√		√
embryo		√	√			√	√	N	√	√	√
embryo phenotype								N
abnormal pharyngeal arch artery morphology			√
abnormal fourth pharyngeal arch artery morphology		√	√			√	√		√		√
absent fourth pharyngeal arch artery										√
abnormal sixth pharyngeal arch artery morphology			√				√		√
abnormal neural crest cell migration			√
endocrine/exocrine glands										√
ectopic thymus										√
hearing/vestibular/ear										√
abnormal ear development										√
hematopoietic system										√
ectopic thymus										√
immune system										√
ectopic thymus										√
mortality/aging	√		√
postnatal lethality, incomplete penetrance			√
embryonic lethality during organogenesis, incomplete penetrance			√
embryonic lethality, complete penetrance	√
nervous system			√	√	N							√
nervous system phenotype					N
abnormal cerebellar foliation				√
decreased brain size				√
abnormal inferior colliculus morphology												√
abnormal cerebral cortex morphology				√
abnormal cerebellar hemisphere morphology				√
abnormal cerebellum hemisphere lobule morphology				√
abnormal lobule simplex morphology				√
abnormal cerebellum fissure morphology				√
abnormal cerebellum vermis lobule morphology				√
abnormal cerebellum vermis lobule VIII morphology				√
absent cerebellum vermis												√
small cerebellum				√								√
cerebellum hypoplasia				√
abnormal cranial nerve morphology			√
abnormal vagus nerve morphology			√
fusion of glossopharyngeal and vagus nerve			√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	ht4
CHARGE syndrome IDs CHARGE syndrome       DOID:0050834 MESH:D058747 NCI:C75100 OMIM:214800 ORDO:138 UMLS_CUI:C0265354 UMLS_CUI:C2936502 Close	√

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	16 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 Chd7 Mutation: 138 strains or lines available

Notes

All BayGenomics gene trap mutations were generated in either CGR8 or E14TG2a (129P2/OlaHsd) parental ES cell lines, with the majority in subline E14TG2a.4. The specific ES cell line in which each mutation was made is not specified.

References

• Original: J:141210 Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI), Mouse Gene Trap Data Load from dbGSS. Database Download. 2008
• All: 5 reference(s)