Phenotypes associated with this allele

• Allele Symbol: Tgfbr1^tm1Karl
• Allele Name: targeted mutation 1, Stefan Karlsson
• Allele ID: MGI:2388050
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tgfbr1^tm1Karl/Tgfbr1^tm1Karl	Not Specified	MGI:2669123
cn2	Tgfbr1^tm1Karl/Tgfbr1^tm1.1Karl Tg(GATA5-cre)1Krc/0	involves: 129	MGI:4836601

Genotype
MGI:2669123

hm1

• Allelic Composition: Tgfbr1^tm1Karl/Tgfbr1^tm1Karl
• Genetic Background: Not Specified

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:68770 )

• death at E10.5

cardiovascular system

abnormal angiogenesis ( J:68770 )

• lack of vessel sprouting in placenta

absent vitelline blood vessels ( J:68770 )

• E9.5

pericardial effusion ( J:68770 )

• E9.5

embryo

absent vitelline blood vessels ( J:68770 )

• E9.5

embryonic growth retardation ( J:68770 )

decreased embryo size ( J:68770 )

abnormal neural tube morphology ( J:68770 )

• thin and dilated

kinked neural tube ( J:68770 )

abnormal placenta labyrinth morphology ( J:68770 )

• E9.5

abnormal visceral yolk sac morphology ( J:68770 )

• E10.5, accumulated red blood cells

growth/size/body

embryonic growth retardation ( J:68770 )

decreased embryo size ( J:68770 )

nervous system

abnormal neural tube morphology ( J:68770 )

• thin and dilated

kinked neural tube ( J:68770 )

homeostasis/metabolism

pericardial effusion ( J:68770 )

• E9.5

Genotype
MGI:4836601

cn2

• Allelic Composition: Tgfbr1^tm1Karl/Tgfbr1^tm1.1Karl; Tg(GATA5-cre)1Krc/0
• Genetic Background: involves: 129

mortality/aging

neonatal lethality, complete penetrance ( J:157922 )

• die after birth

respiratory system

abnormal lung development ( J:157922 )

• late lung development is blocked such that lungs appear more cellular and contain immature alveoli and reduced airspace in distal lungs at E18.5 compared to wild-type

• marker analysis indicates that bronchiolar epithelial progenitor cell differentiation is impaired, however alveolar epithelial cell differentiation appears normal

abnormal bronchiole epithelium morphology ( J:157922 )

• bronchiolar epithelial progenitor cell differentiation is impaired

decreased club cell number ( J:157922 )

• Clara cell numbers are reduced in E18.5 lungs

small lung ( J:157922 )

• lungs are smaller at E15.5

abnormal pulmonary alveolus morphology ( J:157922 )

• distal airways are composed of highly disorganized cells

dilated respiratory conducting tube ( J:157922 )

• enlarged airways in the lungs at E15.5

integument

abnormal skin development ( J:157922 )

• fail to develop ventral skin