All Phenotypes Fbn1<tm3.2Lysa> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fbn1^tm3.2Lysa/Fbn1^tm3.2Lysa	Not Specified	MGI:5313383
ht2	Fbn1^tm3.2Lysa/Fbn1⁺	Not Specified	MGI:5313384

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

Thick skin in Fbn1^tm3.2Lysa/Fbn1⁺ and Fbn1^tm3.2Lysa/Fbn1^tm3.2Lysa mice

integument

decreased subcutaneous adipose tissue amount ( J:181493 )

abnormal skin morphology ( J:181493 )

• mice exhibit thickened and less elastic skin compared to in wild-type mice

abnormal dermal layer morphology ( J:181493 )

• excessive collagen deposition

thick dermal layer ( J:181493 )

thick skin ( J:181493 )

• persisting through old age

limbs/digits/tail

brachyphalangia ( J:181493 )

• short proximal and distal phalanges in the fore and hind paws at 3 to 4 weeks of age

short radius ( J:181493 )

• at 1 month of age

short ulna ( J:181493 )

• at 1 month of age

short tibia ( J:181493 )

• at 1 month of age

short metacarpal bones ( J:181493 )

• at 3 to 4 weeks of age

adipose tissue

decreased subcutaneous adipose tissue amount ( J:181493 )

cardiovascular system

cardiovascular system phenotype ( J:181493 )

N	• in contrast to Fbn1-targeted mouse models of Marfan Syndrome, aortic root morphology is normal

skeleton

decreased length of long bones ( J:181493 )

• at 3 to 4 weeks of age

brachyphalangia ( J:181493 )

• short proximal and distal phalanges in the fore and hind paws at 3 to 4 weeks of age

short radius ( J:181493 )

• at 1 month of age

short ulna ( J:181493 )

• at 1 month of age

short tibia ( J:181493 )

• at 1 month of age

short metacarpal bones ( J:181493 )

• at 3 to 4 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Marfan syndrome	DOID:14323	OMIM:154700	J:181493
Weill-Marchesani syndrome		DOID:0050475	OMIM:277600 OMIM:608328 OMIM:613195 OMIM:614819 OMIM:PS277600	J:181493

Allelic Composition	Fbn1^tm3.2Lysa/Fbn1⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1^tm3.2Lysa mutation (0 available); any Fbn1 mutation (173 available)

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

Thick skin in Fbn1^tm3.2Lysa/Fbn1⁺ and Fbn1^tm3.2Lysa/Fbn1^tm3.2Lysa mice

integument

decreased subcutaneous adipose tissue amount ( J:181493 )

abnormal skin morphology ( J:181493 )

• mice exhibit thickened and less elastic skin compared to in wild-type mice

abnormal dermal layer morphology ( J:181493 )

• excessive collagen deposition

thick dermal layer ( J:181493 )

thick skin ( J:181493 )

• persisting through old age

limbs/digits/tail

brachyphalangia ( J:181493 )

• short proximal and distal phalanges in the fore and hind paws at 3 to 4 weeks of age

short metacarpal bones ( J:181493 )

• at 3 to 4 weeks of age

adipose tissue

decreased subcutaneous adipose tissue amount ( J:181493 )

cardiovascular system

cardiovascular system phenotype ( J:181493 )

N	• in contrast to Fbn1-targeted mouse models of Marfan Syndrome, aortic root morphology is normal

skeleton

brachyphalangia ( J:181493 )

• short proximal and distal phalanges in the fore and hind paws at 3 to 4 weeks of age

short metacarpal bones ( J:181493 )

• at 3 to 4 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Marfan syndrome	DOID:14323	OMIM:154700	J:181493
Weill-Marchesani syndrome		DOID:0050475	OMIM:277600 OMIM:608328 OMIM:613195 OMIM:614819 OMIM:PS277600	J:181493

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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