Symbol
Name
ID

Lmna
lamin A
MGI:96794

Phenotype annotations related to limbs/digits/tail

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Short distal phalanx of finger

Osteolytic defects of the distal phalanges of the hand

Finger joint contracture

Aplasia of the phalanges of the 3rd toe

Acroosteolysis of distal phalanges (feet)

Hammertoe

Coxa valga

Rocker bottom foot

Small hand

Abnormal foot morphology

Achilles tendon contracture

Pes cavus

Talipes

Hip contracture

Hip dislocation

Limitation of movement at ankles

Peroneal muscle atrophy

Toe extensor amyotrophy

Proximal lower limb amyotrophy

Distal lower limb muscle weakness

Peroneal muscle weakness

Hand muscle atrophy

Hand muscle weakness

Proximal upper limb amyotrophy

Scapular winging

Proximal muscle weakness in upper limbs

Distal upper limb amyotrophy

Limb muscle weakness

Foot dorsiflexor weakness

Proximal muscle weakness in lower limbs

Upper limb muscle weakness

Limb-girdle muscular dystrophy

Shoulder girdle muscle atrophy

Limb-girdle muscle weakness

Elbow flexion contracture

Limited wrist movement

Distal upper limb muscle weakness

Disease(s) Associated with LMNA

autosomal dominant Emery-Dreifuss muscular dystrophy 2

autosomal recessive Emery-Dreifuss muscular dystrophy 3

Charcot-Marie-Tooth disease type 2B1

congenital muscular dystrophy due to LMNA mutation

dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Emery-Dreifuss muscular dystrophy

mandibuloacral dysplasia type A lipodystrophy

progeria

Werner syndrome

Mouse Phenotypes		limbs/digits/tail phenotype	decreased eccrine gland number	short tibia	decreased quadriceps weight	abnormal gastrocnemius morphology	abnormal soleus morphology	abnormal tibialis anterior morphology	abnormal tail morphology	kinked tail
Availability	Mouse Genotype	limbs/digits/tail phenotype	decreased eccrine gland number	short tibia	decreased quadriceps weight	abnormal gastrocnemius morphology	abnormal soleus morphology	abnormal tibialis anterior morphology	abnormal tail morphology	kinked tail
	Lmna^Dhe/Lmna^Dhe
	Lmna^{Gt(S7-1F1)Sor}/Lmna^{Gt(S7-1F1)Sor}
	Lmna^tm1Gbon/Lmna^tm1Gbon
	Lmna^tm2Stw/Lmna^tm2Stw	*
	Lmna^{tm1b(EUCOMM)Wtsi}/Lmna⁺
	Lmna^tm4Stw/Lmna^tm4Stw Tg(Zp3-cre)93Knw/0 (conditional)

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23