All Phenotypes Fbn1<tm1Lper> MGI Mouse

Phenotypes associated with this allele

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1^tm1Lper mutation (0 available); any Fbn1 mutation (171 available)

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1^tm1Lper mutation (0 available); any Fbn1 mutation (171 available)

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

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1^tm1Lper mutation (0 available); any Fbn1 mutation (171 available)

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

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

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

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 )

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

• 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

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

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