Phenotypes associated with this allele

• Allele Symbol: Tgfb1⁺
• Allele Name: wild type
• Allele ID: MGI:2152756
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Tgfb1^tm1N/Tgfb1^+	involves: 129S/SvEv * C57BL/6J * NIH/Ola	MGI:3688444
ht2	Tgfb1^tm1Doe/Tgfb1^+	involves: 129S2/SvPas * CF-1	MGI:2174926
ht3	Tgfb1^tm1Jmu/Tgfb1^+	involves: 129S6/SvEvTac * C57BL/6	MGI:3717769
cx4	Fbn1^Tsk/Fbn1^+ Tgfb1^tm1N/Tgfb1^+	involves: 129S/SvEv * C57BL/6J * C57BL/10 * DBA/2	MGI:3800678

Genotype
MGI:3688444

ht1

• Allelic Composition: Tgfb1^tm1N/Tgfb1⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6J * NIH/Ola

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:26913 )

• 20-25% of heterozygotes die between E9.5 and E11.5

Genotype
MGI:2174926

ht2

• Allelic Composition: Tgfb1^tm1Doe/Tgfb1⁺
• Genetic Background: involves: 129S2/SvPas * CF-1

homeostasis/metabolism

increased circulating creatinine level ( J:137529 )

• heterozygotes subjected to renal ischemia-reperfusion (IR) under sevoflurane anesthesia display significantly higher plasma creatinine levels than wild-type mice subjected to renal IR under either sevoflurane or pentobarbital sodium anesthesia

abnormal physiological response to xenobiotic ( J:137529 )

• sevoflurane fails to protect heterozygotes against IR-induced renal tubular necrosis, unlike in wild-type controls

• sevoflurane also fails to protect primary cultures of renal proximal tubules against H2O2-induced necrosis, unlike in wild-type controls

increased susceptibility to kidney reperfusion injury ( J:137529 )

• heterozygotes are not protected against renal IR injury under anesthesia with sevoflurane (a volatile anesthetic), unlike similarly treated wild-type controls

renal/urinary system

increased susceptibility to kidney reperfusion injury ( J:137529 )

• heterozygotes are not protected against renal IR injury under anesthesia with sevoflurane (a volatile anesthetic), unlike similarly treated wild-type controls

renal tubular necrosis ( J:137529 )

• heterozygotes subjected to renal IR injury under sevoflurane anesthesia exhibit more severe renal tubular necrosis than similarly treated wild-type controls

• in culture, sevoflurane-treated proximal tubule cells isolated from heterozygous mice are not protected against H2O2-induced necrosis, unlike similarly treated wild-type proximal tubule cells

Genotype
MGI:3717769

ht3

• Allelic Composition: Tgfb1^tm1Jmu/Tgfb1⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

mortality/aging

prenatal lethality, incomplete penetrance ( J:120085 )

• while Mendelian ratios are present at E10.5, fewer than expected pups are born

Genotype
MGI:3800678

cx4

• Allelic Composition: Fbn1^Tsk/Fbn1⁺; Tgfb1^tm1N/Tgfb1⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6J * C57BL/10 * DBA/2

respiratory system

overexpanded pulmonary alveolus ( J:68448 )

• enlarged alveoli and a histologic picture of emphysema are found, similar to that seen in tight skin heterozygotes with normal TGFB1 expression

immune system

immune system phenotype ( J:68448 )

N • unlike tight skin mice, these compound mutants do not develop autoantibodies against the scleroderma antigens topoisomerase I and fibrillin 1

integument

abnormal cutaneous collagen fibril morphology ( J:68448 )

• electron micrographs of skin show a predominance of abnormally small diameter collagen fibers, the skin is slightly thicker than normal but not as thick as in tight skin mutants with normal TGFB1 expression, and the fat tissue and hair follicles are preserved

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pulmonary emphysema		DOID:9675	OMIM:130700	J:68448