All Phenotypes Acan<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Acan⁺
wild type
MGI:2432617

Summary

5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Acan^m1Btlr/Acan⁺	C57BL/6J-Acan^m1Btlr/Btlr	MGI:6761492
ht2	Acan^m2Btlr/Acan⁺	C57BL/6J-Acan^m2Btlr/Btlr	MGI:6761494
ht3	Acan^{tm1b(EUCOMM)Hmgu}/Acan⁺	C57BL/6N-Acan^{tm1b(EUCOMM)Hmgu}/H	MGI:6261785
ht4	Acan^cmd/Acan⁺	involves: STOCK T t^low Itpr3^tf	MGI:2675624
cn5	Ext1^tm1Yama/Ext1^tm1Yama Acan^{tm1(cre/ERT2)Crm}/Acan⁺	involves: 129S5/SvEvBrd * 129S6/SvEvTac * C57BL/6NCrl	MGI:6101205

Allelic Composition	Acan^m1Btlr/Acan⁺
Genetic Background	C57BL/6J-Acan^m1Btlr/Btlr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acan^m1Btlr mutation (0 available); any Acan mutation (80 available)

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

limbs/digits/tail

short femur ( J:309727 )

short tibia ( J:309727 )

skeleton

short femur ( J:309727 )

short tibia ( J:309727 )

Allelic Composition	Acan^m2Btlr/Acan⁺
Genetic Background	C57BL/6J-Acan^m2Btlr/Btlr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acan^m2Btlr mutation (0 available); any Acan mutation (80 available)

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

limbs/digits/tail

short femur ( J:309727 )

• intermediate

short tibia ( J:309727 )

• intermediate

skeleton

short femur ( J:309727 )

• intermediate

short tibia ( J:309727 )

• intermediate

Allelic Composition	Acan^{tm1b(EUCOMM)Hmgu}/Acan⁺
Genetic Background	C57BL/6N-Acan^{tm1b(EUCOMM)Hmgu}/H
Cell Lines	HEPD0602_5_G11

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acan^{tm1b(EUCOMM)Hmgu} mutation (0 available); any Acan mutation (80 available)

Data Sources

IMPC Data for Acan

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

homeostasis/metabolism

increased circulating HDL cholesterol level ( J:211773 )

IMPC - HAR

Allelic Composition	Acan^cmd/Acan⁺
Genetic Background	involves: STOCK T t^low Itpr3^tf

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acan^cmd mutation (1 available); any Acan mutation (80 available)

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

Radiographs of wild-type and Acan^cmd/Acan⁺ mice

mortality/aging

premature death ( J:41498 )

• no heterozygotes live longer than 19 months

growth/size/body

disproportionate dwarf ( J:41498 )

• slight dwarfism seen about 28 days after birth

behavior/neurological

aphagia ( J:41498 )

• mutants cannot eat and starve within 1 month of developing the abnormal gait

abnormal gait ( J:41498 )

• develop spastic gait and show decreased movement with sudden onset

nervous system

abnormal spinal cord morphology ( J:41498 )

• oppression of the spinal cord by herniated disk

skeleton

abnormal intervertebral disk morphology ( J:41498 )

• herniation of vertebral disks

intervertebral disk degeneration ( J:41498 )

• the chondrocytes of vertebral disks show degeneration and are abnormally packed and the extracellular matrix shows concentric dense bundle patterns instead of a fine diffuse pattern

kyphosis ( J:41498 )

• in the thoraco-lumbar spine

lordosis ( J:41498 )

• in the cervical spine

abnormal vertebral body morphology ( J:41498 )

• disappearance of apophyseal cartilage and deformation of vertebral bodies

Allelic Composition	Ext1^tm1Yama/Ext1^tm1Yama Acan^{tm1(cre/ERT2)Crm}/Acan⁺
Genetic Background	involves: 129S5/SvEvBrd * 129S6/SvEvTac * C57BL/6NCrl

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acan^{tm1(cre/ERT2)Crm} mutation (1 available); any Acan mutation (80 available)
Ext1^tm1Yama mutation (0 available); any Ext1 mutation (65 available)

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

neoplasm

increased osteochondroma incidence ( J:242977 )

• mice injected with tamoxifen at P28 or P35 form large osteochondromas along synchondroses in the cranial base and along growth plates of long bones by 6-8 weeks after injection

• systemic treatment of tamoxifen-injected with mice a BMP signaling antagonist, LDN-193189 reduces osteochondroma development and growth

skeleton

increased osteochondroma incidence ( J:242977 )

• mice injected with tamoxifen at P28 or P35 form large osteochondromas along synchondroses in the cranial base and along growth plates of long bones by 6-8 weeks after injection

• systemic treatment of tamoxifen-injected with mice a BMP signaling antagonist, LDN-193189 reduces osteochondroma development and growth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hereditary multiple exostoses		DOID:206	OMIM:133700 OMIM:133701 OMIM:600209	J:242977

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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