All Phenotypes Adamtsl2<tm1Mtek> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Adamtsl2^tm1Mtek
targeted mutation 1, Mustafa Tekin
MGI:8243400

Summary

3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Adamtsl2^tm1Mtek/Adamtsl2^tm1Mtek	Not Specified	MGI:8243424
ht2	Adamtsl2^{tm1a(KOMP)Wtsi}/Adamtsl2^tm1Mtek	involves: C57BL/6N	MGI:8243426
ht3	Adamtsl2^tm1Mtek/Adamtsl2^tm2Mtek	Not Specified	MGI:8243406

Allelic Composition	Adamtsl2^tm1Mtek/Adamtsl2^tm1Mtek
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adamtsl2^tm1Mtek mutation (0 available); any Adamtsl2 mutation (33 available)

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adamtsl2^{tm1a(KOMP)Wtsi} mutation (1 available); any Adamtsl2 mutation (33 available)
Adamtsl2^tm1Mtek mutation (0 available); any Adamtsl2 mutation (33 available)

♀	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

Allelic Composition	Adamtsl2^tm1Mtek/Adamtsl2^tm2Mtek
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Adamtsl2^tm1Mtek mutation (0 available); any Adamtsl2 mutation (33 available)
Adamtsl2^tm2Mtek mutation (0 available); any Adamtsl2 mutation (33 available)

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

growth/size/body

slow postnatal weight gain ( J:345629 )

• mice show reduced weight gain starting from 3-4 weeks of age

limbs/digits/tail

abnormal phalanx morphology ( J:345629 )

• the fourth proximal phalanges show a width reduction

brachyphalangia ( J:345629 )

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

skeleton

abnormal phalanx morphology ( J:345629 )

• the fourth proximal phalanges show a width reduction

brachyphalangia ( J:345629 )

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

mortality/aging

mortality/aging ( J:345629 )

N	• mice survive after birth

cardiovascular system

cardiovascular system phenotype ( J:345629 )

N	• mice do not show any significant cardiac pathology

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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