Pdgfc^tm1Nagy
Targeted Allele Detail

Summary

• Symbol: Pdgfc^tm1Nagy
• Name: platelet-derived growth factor, C polypeptide; targeted mutation 1, Andras Nagy
• MGI ID: MGI:3510799
• Synonyms: Pdgfc^-
• Gene: Pdgfc Location: Chr3:80943723-81121347 bp, + strand Genetic Position: Chr3, 35.73 cM
• Alliance: Pdgfc^tm1Nagy page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:93954
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 2 was replaced with a SA-IRES-BetageopA cassette. Northern blot analysis indicated a lack of transcript in mutants. X-gal staining showed that the inserted cassette was expressed in the pattern expected from the wild-type allele. (J:93954)

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	Pdgfc^tm1Nagy/Pdgfc^tm1Nagy	involves: 129S1/Sv * 129X1/SvJ
hm2	Pdgfc^tm1Nagy/Pdgfc^tm1Nagy	involves: 129S1/Sv * 129X1/SvJ * C57BL/6
cx3	Pdgfa^tm2Cbet/Pdgfa^tm2Cbet Pdgfc^tm1Nagy/Pdgfc^tm1Nagy	B6.129-Pdgfc^tm1Nagy Pdgfa^tm2Cbet
cx4	Pdgfa^tm1Cbet/Pdgfa^tm1Cbet Pdgfc^tm1Nagy/Pdgfc^tm1Nagy	involves: 129S1/Sv * 129X1/SvJ
cx5	Pdgfa^tm2Cbet/Pdgfa^tm2Cbet Pdgfc^tm1Nagy/Pdgfc^tm1Nagy	involves: 129S1/Sv * 129X1/SvJ * C57BL/6
cx6	Pdgfa^tm1Cbet/Pdgfa^+ Pdgfc^tm1Nagy/Pdgfc^tm1Nagy	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Phenotypes:

Affected Systems	hm1	hm2	cx3	cx4	cx5	cx6
show or hide all annotated terms
cardiovascular system				√
common atrium				√
pericardial effusion				√
craniofacial	√			√
abnormal craniofacial bone morphology				√
abnormal palate bone morphology	√
abnormal palatal shelf fusion at midline	√
palatal shelf hypoplasia	√
cleft secondary palate	√
failure of palatal shelf elevation	√
short nasal septum	√
midline facial cleft				√
digestive/alimentary system	√	√			√
abnormal palate bone morphology	√
abnormal palatal shelf fusion at midline	√
palatal shelf hypoplasia	√
cleft secondary palate	√
failure of palatal shelf elevation	√
abnormal small intestine morphology					√
decreased small intestinal villus number		√			√
embryo	√	√	√	√	√	√
decreased embryo size				√
spina bifida			√	√	√	√
spina bifida occulta	√	√	√		√
wavy neural tube				√
abnormal somite development				√
growth/size/body	√			√	√
abnormal palate bone morphology	√
abnormal palatal shelf fusion at midline	√
palatal shelf hypoplasia	√
cleft secondary palate	√
failure of palatal shelf elevation	√
short nasal septum	√
midline facial cleft				√
decreased embryo size				√
decreased body size					√
homeostasis/metabolism	√			√
pericardial effusion				√
edema	√
hydrops fetalis				√
integument	√			√
blistering	√			√
mortality/aging	√			√
postnatal lethality, complete penetrance	√
neonatal lethality, incomplete penetrance	√
embryonic lethality during organogenesis, complete penetrance				√
muscle				√
abnormal myotome development				√
nervous system	√	√	√	√	√	√
spina bifida			√	√	√	√
spina bifida occulta	√	√	√		√
wavy neural tube				√
renal/urinary system				√
abnormal kidney cortex morphology				√
respiratory system	√
short nasal septum	√
skeleton	√	√	√	√	√
abnormal scapula morphology				√
abnormal axial skeleton morphology				√
abnormal craniofacial bone morphology				√
abnormal palate bone morphology	√
spina bifida occulta	√	√	√		√
short sternum				√
rib bifurcation				√
rib fusion				√
kyphosis					√

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

Expression

In Mice Carrying this Mutation:	50 assay results 3 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 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 Pdgfc Mutation: 35 strains or lines available

References

• Original: J:93954 Ding H, et al., A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling. Nat Genet. 2004 Oct;36(10):1111-6
• All: 17 reference(s)