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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pdgfatm1Cbet
targeted mutation 1, Christer Betsholtz
MGI:1926817
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pdgfatm1Cbet/Pdgfatm1Cbet involves: 129P2/OlaHsd * C57BL MGI:2175213
hm2
Pdgfatm1Cbet/Pdgfatm1Cbet involves: 129P2/OlaHsd * C57BL/6 MGI:3694057
hm3
Pdgfatm1Cbet/Pdgfatm1Cbet involves: 129S1/Sv * 129X1/SvJ MGI:5548183
cx4
Pdgfatm1Cbet/Pdgfatm2Cbet
Pdgfratm11(EGFP)Sor/Pdgfra+
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 MGI:5548177
cx5
Pdgfatm1Cbet/Pdgfatm1Cbet
Pdgfctm1Nagy/Pdgfctm1Nagy
involves: 129S1/Sv * 129X1/SvJ MGI:3511133
cx6
Pdgfatm1Cbet/Pdgfa+
Pdgfctm1Nagy/Pdgfctm1Nagy
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5548182


Genotype
MGI:2175213
hm1
Allelic
Composition
Pdgfatm1Cbet/Pdgfatm1Cbet
Genetic
Background
involves: 129P2/OlaHsd * C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdgfatm1Cbet mutation (0 available); any Pdgfa mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no homozygotes survive beyond 6 weeks of age
• about 30% of homozygotes die early postnatally
• homozygotes surviving P4 live for an average of 3-4 weeks
• however, no homozygotes survive beyond 6 weeks of age
• about 50% of homozygotes die before E10, with no subsequent loss during the prenatal period

growth/size/body
• at >2 weeks, homozygotes exhibit right ventricular hypertrophy, probably as a result of pulmonary dysfunction ("cor pulmonale")
• no cardiac dysmorphology is noted during embryonic or early postnatal stages
• no apparent hemorrhaging, anemia, erythroblastosis or thrombocytopenia are observed
• postnatal survivors exhibit an enlarged thoracic cavity, with lungs appearing to expand until tissue breaks
• by 4 weeks, surviving homozygotes are at least 50% smaller than wild-type mice
• at >2 weeks, homozygotes show a symmetrical size reduction in most organs
• at E17-E19, surviving homozygotes are 10-20% smaller than wild-type fetuses
• at E17-E19, surviving homozygotes are growth retarded

respiratory system
• postmortem, several homozygotes exhibit bleeding in the lungs
• bleeding and pneumothorax are two potential causes of postnatal lethality
• at >2 weeks, mutant lungs appear hyperinflated, with abnormally large, air-filled cavities throughout the parenchyma
• at P10-P14, homozygotes display failure of alveolar septation
• at >2 weeks, pulmonary alveoli are absent
• at P14, mutant lungs show large areas of atelectasis; smaller areas of collapsed lung tissue are evident as early as P4
• by P19, atelectasis often affects entire lung lobes, resulting in distension of the remaining air-filled lobes
• at >2 weeks, alveolar septa are absent
• at >2 weeks, homozygotes exhibit progressive, generalized emphysema
• little subcompartmentalization of lung parenchyma occurs after P4
• at 3 weeks, mutant lungs show loss of alveolar myofibroblasts and parenchymal elastin, with a "clear zone" extending into the narrow space between the type I pneumocyte and capillary endothelial cell cytoplasm
• loss of septal myofibrils and elastin fibers is specific to lung parenchyma, as elastin fibers occur at normal abundance in blood vessel and bonchus walls
• upon autopsy and during dissections under phosphate-buffered saline, air bubbles were frequently observed to leave the pleural surfaces of mutant lungs

cardiovascular system
• at >2 weeks, homozygotes exhibit right ventricular hypertrophy, probably as a result of pulmonary dysfunction ("cor pulmonale")
• no cardiac dysmorphology is noted during embryonic or early postnatal stages
• no apparent hemorrhaging, anemia, erythroblastosis or thrombocytopenia are observed
• at >2 weeks, homozygotes show a >2-fold increase in right ventricular wall thickness relative to heterozygotes
• postmortem, several homozygotes exhibit bleeding in the lungs
• bleeding and pneumothorax are two potential causes of postnatal lethality

muscle
• at >2 weeks, homozygotes exhibit right ventricular hypertrophy, probably as a result of pulmonary dysfunction ("cor pulmonale")
• no cardiac dysmorphology is noted during embryonic or early postnatal stages
• no apparent hemorrhaging, anemia, erythroblastosis or thrombocytopenia are observed




Genotype
MGI:3694057
hm2
Allelic
Composition
Pdgfatm1Cbet/Pdgfatm1Cbet
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdgfatm1Cbet mutation (0 available); any Pdgfa mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most die within a few days after birth, although some survive for as long as 6 weeks

respiratory system
• those that survive past the neonatal period, eventually die of respiratory failure

reproductive system
• because of the spermatogenic arrest in the seminiferous tubules, the epididymis is devoid of sperm cells
• starting from P25, surviving males show reduced diameter of the tubules and lumen and the interstitial tissue is more abundant
• starting from P25, the epithelial cells show a multilayered deposition with disorderly arrangement




Genotype
MGI:5548183
hm3
Allelic
Composition
Pdgfatm1Cbet/Pdgfatm1Cbet
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdgfatm1Cbet mutation (0 available); any Pdgfa mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• reduced thickness of the submucosal mesenchyme in the upper small intestine
• reduced number of villi in the upper small intestine




Genotype
MGI:5548177
cx4
Allelic
Composition
Pdgfatm1Cbet/Pdgfatm2Cbet
Pdgfratm11(EGFP)Sor/Pdgfra+
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdgfatm1Cbet mutation (0 available); any Pdgfa mutation (20 available)
Pdgfatm2Cbet mutation (1 available); any Pdgfa mutation (20 available)
Pdgfratm11(EGFP)Sor mutation (1 available); any Pdgfra mutation (88 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• progressive dilated distal airway
• at 3 months

digestive/alimentary system
N
• mice exhibit normal gastrointestinal tract

renal/urinary system
N
• mice exhibit normal kidneys

skeleton
N
• mice exhibit normal skeleton




Genotype
MGI:3511133
cx5
Allelic
Composition
Pdgfatm1Cbet/Pdgfatm1Cbet
Pdgfctm1Nagy/Pdgfctm1Nagy
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdgfatm1Cbet mutation (0 available); any Pdgfa mutation (20 available)
Pdgfctm1Nagy mutation (0 available); any Pdgfc mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
• at E15.5 atrial septa are absent in double homozygous embryos generated using tetraploid chimeras
• pericardial effusion is seen at E10.5

craniofacial
• craniofacial bone defects similar to those in Pdgfra null embryos are seen
• at E11.5 a cleft face is seen in double homozygous embryos generated using tetraploid chimeras

embryo
• at E10.5 double homozygotes are growth retarded
• at E13.5 incomplete neural arch of vertebrae is seen in double homozygous embryos generated using tetraploid chimeras
• a wavy neural tube is seen at E10.5
• at E10.5 disorganized sclerotome, dermomyotome, and myotome is seen in somites of the cervical region of double homozygous embryos generated using tetraploid chimeras

growth/size/body
• at E11.5 a cleft face is seen in double homozygous embryos generated using tetraploid chimeras
• at E10.5 double homozygotes are growth retarded

homeostasis/metabolism
• pericardial effusion is seen at E10.5
• edema is seen in double homozygous embryos generated using tetraploid chimeras

muscle
• at E10.5 the myotome of somites in the lower occipital and cervical region is necrotic and poorly organized
• the metameric organization of myotomes in somites of the cervical region is disorganized at E10.5 in double homozygous embryos generated using tetraploid chimeras

renal/urinary system
• at E15.5 decreased interstitial mesenchyme is seen in the kidney cortex of double homozygous embryos generated using tetraploid chimeras

skeleton
• at E14.5 retarded formation of the scapula is seen in double homozygous embryos generated using tetraploid chimeras
• craniofacial bone defects similar to those in Pdgfra null embryos are seen
• at E14.5 a short sternum is seen in double homozygous embryos generated using tetraploid chimeras
• at E14.5 rib bifurcations and fusions are seen in double homozygous embryos generated using tetraploid chimeras
• at E14.5 rib bifurcations and fusions are seen in double homozygous embryos generated using tetraploid chimeras

nervous system
• at E13.5 incomplete neural arch of vertebrae is seen in double homozygous embryos generated using tetraploid chimeras
• a wavy neural tube is seen at E10.5

integument
• subepidermal blistering is seen at E10.5




Genotype
MGI:5548182
cx6
Allelic
Composition
Pdgfatm1Cbet/Pdgfa+
Pdgfctm1Nagy/Pdgfctm1Nagy
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdgfatm1Cbet mutation (0 available); any Pdgfa mutation (20 available)
Pdgfctm1Nagy mutation (0 available); any Pdgfc mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• severe in all mice

nervous system
• severe in all mice





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory