Phenotypes Associated with This Genotype

Genotype
MGI:8243426

• Allelic Composition: Adamtsl2^{tm1a(KOMP)Wtsi}/Adamtsl2^tm1Mtek
• Genetic Background: involves: C57BL/6N

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

cardiovascular system

cardiovascular system phenotype ( J:345629 )

N • mice do not show any significant cardiac pathology

craniofacial

abnormal cranium morphology ( J:345629 )

• cranium is more rounded

growth/size/body

decreased body weight ( J:345629 )

• mice show reduced weight gain after 2 to 3 months of age

limbs/digits/tail

brachyphalangia ( J:345629 )

• proximal phalanges of second, third, and fourth digits from front paws are shorter

short femur ( J:345629 )

• femur length is shortened, but to a smaller extent than in mice carrying the Adamtsl2^tm2Mtek allele, and no difference is seen in width or cortical thickness

mortality/aging

mortality/aging ( J:345629 )

N • mice exhibit normal survival

skeleton

abnormal cranium morphology ( J:345629 )

• cranium is more rounded

brachyphalangia ( J:345629 )

• proximal phalanges of second, third, and fourth digits from front paws are shorter

short femur ( J:345629 )

• femur length is shortened, but to a smaller extent than in mice carrying the Adamtsl2^tm2Mtek allele, and no difference is seen in width or cortical thickness

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
geleophysic dysplasia 1		DOID:0111725	OMIM:231050	J:345629