All Phenotypes Fbn1<tm1.2Lysa> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Fbn1^tm1.2Lysa
targeted mutation 1.2, Lynn Y Sakai
MGI:4839045

Summary

3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fbn1^tm1.2Lysa/Fbn1^tm1.2Lysa	involves: C57BL/6	MGI:4839088
ht2	Fbn1^tm1.2Lysa/Fbn1⁺	involves: C57BL/6	MGI:4839089
cx3	Fbn1^tm1.2Lysa/Fbn1⁺ Fbn2^tm1Rmz/Fbn2^tm1Rmz	involves: 129/Sv * C57BL/6	MGI:4839090

Allelic Composition	Fbn1^tm1.2Lysa/Fbn1^tm1.2Lysa
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1^tm1.2Lysa mutation (0 available); any Fbn1 mutation (171 available)

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

Perturbed microfibril structure in Fbn1^tm1.2Lysa/Fbn1^tm1.2Lysa mice

mortality/aging

postnatal lethality, complete penetrance ( J:165897 )

• mice die between P9 and P18 with most mice dying at P14

cardiovascular system

abnormal aorta elastic fiber morphology ( J:165897 )

• at 2 months, mice exhibit progressive fragmentation of the aortic elastic lamellae with age unlike wild-type mice

skeleton

abnormal tendon morphology ( J:165897 )

• at P8, mice exhibit fragmentation of the microfibril network unlike in wild-type mice

muscle

abnormal skeletal muscle fiber morphology ( J:165897 )

• at P8, mice exhibit fragmentation of the microfibril network unlike in wild-type mice

abnormal tendon morphology ( J:165897 )

• at P8, mice exhibit fragmentation of the microfibril network unlike in wild-type mice

integument

abnormal cutaneous microfibril morphology ( J:165897 )

• at P8, mice exhibit fragmentation of the microfibril network unlike in wild-type mice

Allelic Composition	Fbn1^tm1.2Lysa/Fbn1⁺
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1^tm1.2Lysa mutation (0 available); any Fbn1 mutation (171 available)

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

Fragmentation of aortic root elastic lamellae in Fbn1^tm1.2Lysa/Fbn1⁺ mice

cardiovascular system

abnormal aorta elastic fiber morphology ( J:165897 )

• at 2 months, mice exhibit progressive fragmentation of the aortic elastic lamellae with age unlike wild-type mice

muscle

abnormal skeletal muscle fiber morphology ( J:165897 )

• at P8, mice exhibit fragmentation of the microfibril network unlike in wild-type mice

• however, early postnatal assembly of microfibril networks is normal

abnormal tendon morphology ( J:165897 )

• at P8, mice exhibit fragmentation of the microfibril network unlike in wild-type mice

• however, early postnatal assembly of microfibril networks is normal

skeleton

abnormal tendon morphology ( J:165897 )

• at P8, mice exhibit fragmentation of the microfibril network unlike in wild-type mice

• however, early postnatal assembly of microfibril networks is normal

integument

abnormal cutaneous microfibril morphology ( J:165897 )

• at P8, mice exhibit fragmentation of the microfibril network unlike in wild-type mice

• however, early postnatal assembly of microfibril networks is normal

Allelic Composition	Fbn1^tm1.2Lysa/Fbn1⁺ Fbn2^tm1Rmz/Fbn2^tm1Rmz
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1^tm1.2Lysa mutation (0 available); any Fbn1 mutation (171 available)
Fbn2^tm1Rmz mutation (1 available); any Fbn2 mutation (142 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:165897 )

• most mice die right after birth especially when the dam is homozygous for Fbn2^tm1Rmz

prenatal lethality, incomplete penetrance ( J:165897 )

• especially when the dam is homozygous for Fbn2^tm1Rmz

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