Phenotypes associated with this allele

• Allele Symbol: Fbn1^tm1Lper
• Allele Name: targeted mutation 1, Lygia V Pereira
• Allele ID: MGI:4880665
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fbn1^tm1Lper/Fbn1^tm1Lper	involves: 129/Sv * C57BL/6 * CD-1	MGI:4880674
hm2	Fbn1^tm1Lper/Fbn1^tm1Lper	involves: 129/Sv * CD-1	MGI:4880673
ht3	Fbn1^tm1Lper/Fbn1^+	involves: 129/Sv * C57BL/6 * CD-1	MGI:4880671
ht4	Fbn1^tm1Lper/Fbn1^+	involves: 129/Sv * CD-1	MGI:4880670

Genotype
MGI:4880674

hm1

• Allelic Composition: Fbn1^tm1Lper/Fbn1^tm1Lper
• Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:167276 )

• mice die after E13

Genotype
MGI:4880673

hm2

• Allelic Composition: Fbn1^tm1Lper/Fbn1^tm1Lper
• Genetic Background: involves: 129/Sv * CD-1

mortality/aging

postnatal lethality, complete penetrance ( J:167276 )

• the few mice born die between 4 and 8 days of age

embryonic lethality during organogenesis, incomplete penetrance ( J:167276 )

• mice die after E13

Genotype
MGI:4880671

ht3

• Allelic Composition: Fbn1^tm1Lper/Fbn1⁺
• Genetic Background: involves: 129/Sv * C57BL/6 * CD-1

cardiovascular system

abnormal aorta tunica media morphology ( J:167276 )

• at 9 months, aortic media is thickened compared to in wild-type mice

• Background Sensitivity: however, mice on a C57BL/6 congenic background are asymptomatic at 3 months unlike mice on a 129/Sv congenic background

respiratory system

emphysema ( J:167276 )

• Background Sensitivity: at 3 months, expanded alveoli in mice on a C57BL/6 congenic background are milder than in mice on a 129/Sv congenic background

• at 6 months, mice exhibit severely expanded alveoli compared with wild-type mice

skeleton

abnormal skeleton morphology ( J:167276 )

• Background Sensitivity: skeletal manifestations (measured by ratio between the linear distance and the length from the first cervical vertebrae to the last thoracic vertebrae) in mice on a C57BL/6 congenic background are milder than in mice on a 129/Sv congenic background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Marfan syndrome		DOID:14323	OMIM:154700	J:167276

Genotype
MGI:4880670

ht4

• Allelic Composition: Fbn1^tm1Lper/Fbn1⁺
• Genetic Background: involves: 129/Sv * CD-1

mortality/aging

premature death ( J:167276 )

• at 3 months with hemothorax

respiratory system

hemothorax ( J:167276 )

lung inflammation ( J:167276 )

• chronic

abnormal lung morphology ( J:167276 )

• at 3 months, pulmonary alterations in mice on a 129/Sv congenic background are stronger than in mice on a C57BL/6 congenic background

• mice on a congenic 129/Sv background exhibit wide clinical variability

abnormal respiratory bronchiole morphology ( J:167276 )

• mice exhibit enlarged peripheral air space (respiratory bronchioles and alveoli) compared with wild-type mice

emphysema ( J:167276 )

• mice exhibit enlarged peripheral air space (respiratory bronchioles and alveoli) compared with wild-type mice

cardiovascular system

abnormal aorta tunica media morphology ( J:167276 )

• aortic media is thickened compared to in wild-type mice

• Background Sensitivity: at 3 months, enlarged media in mice on a 129/Sv congenic background is stronger than in mice on a C57BL/6 congenic background

• mice on a congenic 129/Sv background exhibit wide clinical variability

abnormal aorta elastic fiber morphology ( J:167276 )

hemothorax ( J:167276 )

skeleton

abnormal skeleton morphology ( J:167276 )

• Background Sensitivity: skeletal manifestations (measured by the ratio between the linear distance and the length from the first cervical vertebrae to the last thoracic vertebrae) in mice on a 129/Sv congenic background are stronger than in mice on a C57BL/6 congenic background

• mice on a congenic 129/Sv background exhibit wide clinical variability

kyphosis ( J:167276 )

• at 2 months

immune system

lung inflammation ( J:167276 )

• chronic

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Marfan syndrome		DOID:14323	OMIM:154700	J:167276