Pdgfra<tm8Sor> Targeted Allele Detail MGI Mouse (MGI:2449440)

Pdgfra^tm8Sor
Targeted Allele Detail

Nomenclature

Symbol:	Pdgfra^tm8Sor
Name:	platelet derived growth factor receptor, alpha polypeptide; targeted mutation 8, Philippe Soriano
MGI ID:	MGI:2449440
Synonyms:	PDGFRalpha^fl
Gene:	Pdgfra Location: Chr5:75548361-75594218 bp, + strand Genetic Position: Chr5, 42.0 cM

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:81153
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Mutation
description

Allele Type:	Targeted (Floxed/Frt)
Mutation:	Insertion
	A loxP site was introduced upstream of exon 1 and a PGK-neo-loxP cassette was introduced downstream of exon 4 via homologous recombination. (J:81153)

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 Pdgfra Mutation:	3 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	cn1	cn2	cn3	cn4	cn5
cardiovascular system			√	√	√	√
retroesophageal right subclavian artery				√	√
abnormal heart development				√
persistent truncus arteriosis				√	√	√
abnormal ventricular septum morphology				√	√	√
abnormal patterning of the aortic arch						√
abnormal vasculogenesis						√
hemorrhage						√
internal hemorrhage			√
		cn1	cn2	cn3	cn4	cn5
craniofacial					√	√
abnormal craniofacial morphology						√
cleft palate					√
abnormal frontal bone morphology						√
abnormal nasal bone morphology						√
abnormal nasal capsule morphology						√
short snout						√
midline facial cleft						√
		cn1	cn2	cn3	cn4	cn5
digestive/alimentary system					√
cleft palate					√
		cn1	cn2	cn3	cn4	cn5
embryogenesis					√
abnormal neural crest cell migration					√
		cn1	cn2	cn3	cn4	cn5
endocrine/exocrine glands		√	√
abnormal ovarian follicle morphology		√
decreased thecal cell number		√
small ovary		√
abnormal testis morphology		√	√
Leydig cell hypoplasia		√
abnormal testis cord formation		√
small testis		√	√
abnormal adrenal gland morphology			√
abnormal adrenal cortex morphology			√
small adrenal glands			√
		cn1	cn2	cn3	cn4	cn5
hematopoietic system					√	√
abnormal thymus development					√
small thymus						√
thymus hypoplasia					√
		cn1	cn2	cn3	cn4	cn5
homeostasis/metabolism		√			√
decreased circulating estradiol level		√
cyanosis					√
		cn1	cn2	cn3	cn4	cn5
immune system					√	√
abnormal thymus development					√
small thymus						√
thymus hypoplasia					√
		cn1	cn2	cn3	cn4	cn5
lethality/postnatal						√
postnatal lethality						√
		cn1	cn2	cn3	cn4	cn5
lethality/prenatal-perinatal			√		√
perinatal lethality			√		√
		cn1	cn2	cn3	cn4	cn5
reproductive system		√	√
reproductive system phenotype		N
abnormal ovarian follicle morphology		√
decreased thecal cell number		√
small ovary		√
abnormal testis morphology		√	√
Leydig cell hypoplasia		√
abnormal testis cord formation		√
small testis		√	√
uterus hypoplasia		√
oligozoospermia		√
abnormal spermatocyte morphology		√
delayed fertility		√
anovulation		√
		cn1	cn2	cn3	cn4	cn5
respiratory system						√
abnormal nasal capsule morphology						√
		cn1	cn2	cn3	cn4	cn5
skeleton						√
abnormal frontal bone morphology						√
abnormal nasal bone morphology						√
abnormal nasal capsule morphology						√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
cn1	Pdgfra^tm8Sor/Pdgfra^tm8Sor Tg(Nr5a1-cre)2Klp/0	either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)
reproductive system reproductive system phenotype (J:142042) phenotypes observed in testes and ovaries at 6 weeks of age are recoverable by 3 and 6 months of age abnormal ovarian follicle morphology (J:142042) 6-8 week old females have decreased follicle development decreased thecal cell number (J:142042) 6-8 week old females have reduced numbers of theca cells in the maturing follicles of the ovaries, although a thin, broken theca interna is seen in the ovary small ovary (J:142042) 6-8 week old females have small ovaries abnormal testis morphology (J:142042) fewer steroid-producing cells are seen at E12.5-E14.5 in the testis 75% of mutants exhibit low testosterone levels in the testes at 6 weeks of age, however by 10 weeks, levels are higher Leydig cell hypoplasia (J:142042) reduction in number of adult Leydig cells at 6 weeks of age abnormal testis cord formation (J:142042) testis cord formation is delayed at E12.5-E14.5 observe areas of spermatocyte loss from the testis cords at 6 weeks of age small testis (J:142042) testes are smaller at 6 weeks of age but by 10 weeks they appear normal sized uterus hypoplasia (J:142042) 6-8 week old females have underdeveloped uteri oligozoospermia (J:142042) few sperm are seen within the epididymis at 6 weeks of age abnormal spermatocyte morphology (J:142042) observe areas of spermatocyte loss from the testis cords at 6 weeks of age delayed fertility (J:142042) delay in fertility, however by 3 to 6 months of age, mutants become fertile anovulation (J:142042) 6-8 week old females show no evidence of ovlulation homeostasis/metabolism decreased circulating estradiol level (J:142042) 6-8 week old females exhibit lower estradiol levels endocrine/exocrine glands abnormal ovarian follicle morphology (J:142042) 6-8 week old females have decreased follicle development decreased thecal cell number (J:142042) 6-8 week old females have reduced numbers of theca cells in the maturing follicles of the ovaries, although a thin, broken theca interna is seen in the ovary small ovary (J:142042) 6-8 week old females have small ovaries abnormal testis morphology (J:142042) fewer steroid-producing cells are seen at E12.5-E14.5 in the testis 75% of mutants exhibit low testosterone levels in the testes at 6 weeks of age, however by 10 weeks, levels are higher Leydig cell hypoplasia (J:142042) reduction in number of adult Leydig cells at 6 weeks of age abnormal testis cord formation (J:142042) testis cord formation is delayed at E12.5-E14.5 observe areas of spermatocyte loss from the testis cords at 6 weeks of age small testis (J:142042) testes are smaller at 6 weeks of age but by 10 weeks they appear normal sized
Genotype	Allelic Composition	Genetic Background
cn2	Pdgfra^tm8Sor/Pdgfra^tm8Sor Pdgfrb^tm11Sor/Pdgfrb^tm11Sor Tg(Nr5a1-cre)2Klp/0	either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)
lethality/prenatal-perinatal perinatal lethality (J:142042) few mutants are recovered after birth, however mutants are recovered at E18.5, indicating perinatal lethality endocrine/exocrine glands abnormal adrenal gland morphology (J:142042) reduction in steroid-producing cells in the adrenal glands at E18.5 abnormal adrenal cortex morphology (J:142042) reduction in adrenal cortex small adrenal glands (J:142042) small adrenal glands are seen just before birth (E18.5) abnormal testis morphology (J:142042) reduction in steroid-producing cells in the testis at E18.5 testes are frequently hemorrhagic at E18.5 small testis (J:142042) small testes at E18.5 cardiovascular system internal hemorrhage (J:142042) testes are frequently hemorrhagic at E18.5 reproductive system abnormal testis morphology (J:142042) reduction in steroid-producing cells in the testis at E18.5 testes are frequently hemorrhagic at E18.5 small testis (J:142042) small testes at E18.5
Genotype	Allelic Composition	Genetic Background
cn3	Pdgfra^tm8Sor/Pdgfra^tm8Sor Tg(Wnt1-cre)11Rth/?	involves: C57BL/6 * CBA
cardiovascular system retroesophageal right subclavian artery (J:122584) in 50% of mice abnormal heart development (J:122584) cardiac development is delayed persistent truncus arteriosis (J:122584) in 25% of mice abnormal ventricular septum morphology (J:122584) in 75% of mice
Genotype	Allelic Composition	Genetic Background
cn4	Pdgfra^tm8Sor/Pdgfra^tm8Sor Pdgfrb^tm1Mdt/Pdgfrb^tm1Mdt Tg(Wnt1-cre)11Rth/?	involves: C57BL/6 * CBA
lethality/prenatal-perinatal perinatal lethality (J:122584) 100% of mice die after birth cardiovascular system retroesophageal right subclavian artery (J:122584) in 100% of mice persistent truncus arteriosis (J:122584) in 100% of mice abnormal ventricular septum morphology (J:122584) in 100% of mice hematopoietic system abnormal thymus development (J:122584) thymus development is aberrant thymus hypoplasia (J:122584) thymus development is aberrant craniofacial cleft palate (J:122584) at birth homeostasis/metabolism cyanosis (J:122584) at birth immune system abnormal thymus development (J:122584) thymus development is aberrant thymus hypoplasia (J:122584) thymus development is aberrant digestive/alimentary system cleft palate (J:122584) at birth embryogenesis abnormal neural crest cell migration (J:122584) neural crest cell (NCC) migration defects occur in the conotruncus region NCCs fail to migrate to the thymic epithelium
Genotype	Allelic Composition	Genetic Background
cn5	Pdgfra^tm8Sor/Pdgfra^tm8Sor Tg(Wnt1-cre)11Rth/0	Not Specified
lethality/postnatal postnatal lethality (J:81153) cardiovascular system abnormal patterning of the aortic arch (J:81153) observed between E17.7-E18.5 displayed abnormal vasculogenesis (J:81153) abnormal origin of the right subclavian artery persistent truncus arteriosis (J:81153) observed between E17.7-E18.5 displayed abnormal ventricular septum morphology (J:81153) possible ventricular septal defects hemorrhage (J:81153) midline hemorrhage craniofacial abnormal craniofacial morphology (J:81153) developmental defects appear at E11.5 with a gap in the frontal nasal processes and progresses to hemorrhaging and blebbing by E13.5 abnormal frontal bone morphology (J:81153) phenotype varied in severity; the frontal bones were absent or failed to fuse abnormal nasal bone morphology (J:81153) phenotype varied in severity; the nasal bones were absent or failed to fuse abnormal nasal capsule morphology (J:81153) phenotype varied in severity; the nasal capsule was absent or failed to fuse short snout (J:81153) snouts shortened by 8% midline facial cleft (J:81153) phenotype varied in severity due to defects in the nasal capsule and/or frontal and nasal bones immune system small thymus (J:81153) observed with very low penetrance (3 out of 32 homozygous mutant embryos) skeleton abnormal frontal bone morphology (J:81153) phenotype varied in severity; the frontal bones were absent or failed to fuse abnormal nasal bone morphology (J:81153) phenotype varied in severity; the nasal bones were absent or failed to fuse abnormal nasal capsule morphology (J:81153) phenotype varied in severity; the nasal capsule was absent or failed to fuse hematopoietic system small thymus (J:81153) observed with very low penetrance (3 out of 32 homozygous mutant embryos) respiratory system abnormal nasal capsule morphology (J:81153) phenotype varied in severity; the nasal capsule was absent or failed to fuse

References

Original:	J:81153 Tallquist MD et al., "Cell autonomous requirement for PDGFRalpha in populations of cranial and cardiac neural crest cells." Development 2003 Feb;130(3):507-18
All:	7 reference(s)

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