All Phenotypes Fermt2<tm1.1Gxo> MGI Mouse

Phenotypes associated with this allele

Allelic Composition	Fermt2^tm1.1Gxo/Fermt2^tm1.1Gxo
Genetic Background	B6.129(Cg)-Fermt2^tm1.1Gxo

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fermt2^tm1.1Gxo mutation (0 available); any Fermt2 mutation (32 available)

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

normal phenotype

no abnormal phenotype detected ( J:224370 )

• homozygotes are viable and fertile with no apparent phenotypic abnormalities

Allelic Composition	Fermt2^tm1.1Gxo/Fermt2⁺
Genetic Background	B6.129(Cg)-Fermt2^tm1.1Gxo

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fermt2^tm1.1Gxo mutation (0 available); any Fermt2 mutation (32 available)

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

normal phenotype

no abnormal phenotype detected ( J:224370 )

• heterozygotes are viable and fertile with no apparent phenotypic abnormalities

Allelic Composition	Fermt2^tm1.1Gxo/Fermt2^tm1.1Gxo Tg(Col2a1-cre)1Bhr/0
Genetic Background	B6.Cg-Fermt2^tm1.1Gxo Tg(Col2a1-cre)1Bhr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fermt2^tm1.1Gxo mutation (0 available); any Fermt2 mutation (32 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)

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

mortality/aging

premature death ( J:224370 )

• mice die within 1 month of birth because of respiratory distress

growth/size/body

decreased body size ( J:224370 )

• severe dwarfism at P20

postnatal growth retardation ( J:224370 )

• all mice develop rapid growth retardation after birth

respiratory system

respiratory distress ( J:224370 )

• respiratory distress probably associated with compression of cervical and thoracic vertebrae as a result of kyphosis

limbs/digits/tail

decreased femur compact bone thickness ( J:224370 )

• significant reduction in femur cortical bone thickness at P30

short limbs ( J:224370 )

• P0 forelimbs and hindlimbs are shorter than normal

skeleton

skeleton phenotype ( J:224370 )

N	• mice do not exhibit any marked abnormalities in the skull vault and clavicle, suggesting normal intramembraneous ossification

abnormal skeleton morphology ( J:224370 )

• reduced skeleton size at P0 and P20

decreased femur compact bone thickness ( J:224370 )

• significant reduction in femur cortical bone thickness at P30

abnormal long bone epiphyseal plate morphology ( J:224370 )

• at P0, representative images of proliferative and hypertrophic zone chondrocytes show disrupted column formation in humeral sections

decreased length of long bones ( J:224370 )

• significant reduction in the length of all long bones (femur, tibia, humerus, radius and ulna) and their respective bony portions at P0

small thoracic cage ( J:224370 )

• P0 ribcage is smaller than normal

kyphosis ( J:224370 )

• ~80% of mice develop progressive kyphosis

• severe kyphosis at P20

vertebral compression ( J:224370 )

• compression of cervical and thoracic vertebrae resulting from kyphosis

small vertebrae ( J:224370 )

• vertebrae are shorter than normal

decreased bone mineral density ( J:224370 )

decreased trabecular bone volume ( J:224370 )

• dramatic reduction in femur trabecular bone volume/tissue volume (BV/TV) at P30

delayed endochondral bone ossification ( J:224370 )

• Alcian blue stain of P17 and P30 tibial sections indicates delayed formation of the secondary ossification center and reduced subchondral bone

Allelic Composition	Fermt2^tm1.1Gxo/Fermt2⁺ Tg(Prrx1-cre)1Cjt/0
Genetic Background	B6.Cg-Fermt2^tm1.1Gxo Tg(Prrx1-cre)1Cjt

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fermt2^tm1.1Gxo mutation (0 available); any Fermt2 mutation (32 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)

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

normal phenotype

no abnormal phenotype detected ( J:224370 )

• mice are viable and fertile and do not show any skeletal phenotypes in calvaria, forelimb, hindlimb, sternum, and clavicle at E16.5 and E18.5

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

mortality/aging

neonatal lethality, complete penetrance ( J:224370 )

• all mice die immediately after birth

cardiovascular system

hematoma ( J:224370 )

• all E16.5 embryos show a hematoma on the top of the head which grows larger over time (E18.5 and P0)

craniofacial

absent neurocranium ( J:224370 )

• complete loss of the skull vault at E16.5, E18.5 and P0

skeleton

increased chondrocyte apoptosis ( J:224370 )

• marked increase of chondrocyte apoptosis noted in the proliferative zone at E14.5 and in the hypertrophic zone at E16.5, as detected by TUNEL staining of humeral growth plates

• upregulation of cleaved (active) caspase-3 in E14.5 chondrocytes, consistent with increased cell apoptosis

decreased chondrocyte proliferation ( J:224370 )

• significant reduction in chondrocyte proliferation rate, as shown by BrdU staining of E14.5 humeral growth plates

abnormal skeleton morphology ( J:224370 )

• all E14.5-P0 mice exhibit multiple striking skeletal defects

• however, overall body size is not markedly different from that of controls

absent neurocranium ( J:224370 )

• complete loss of the skull vault at E16.5, E18.5 and P0

small clavicle ( J:224370 )

• significant reduction in clavicle length at E18.5

clavicle hypoplasia ( J:224370 )

• severe hypoplasia of the clavicle at E18.5

abnormal long bone epiphyseal plate proliferative zone ( J:224370 )

• chondrocytes fail to form regular columns in the proliferative zone of humeral growth plates, unlike in controls

abnormal long bone hypertrophic chondrocyte zone ( J:224370 )

• absence of an organized hypertrophic zone in humeral growth plates at E14.5

disorganized long bone epiphyseal plate ( J:224370 )

• large spherical chondrocytes are scattered throughout the humeral growth plate, instead of forming the highly organized hypertrophic zone seen in controls

decreased length of long bones ( J:224370 )

• significant reduction in the length of all long bones (femur, tibia, humerus, radius and ulna) and their respective bony portions at E18.5

brachyphalangia ( J:224370 )

• blocked (forelimb) or delayed (hindlimb) elongation of distal phalanges at E18.5

short humerus ( J:224370 )

• at E18.5

short radius ( J:224370 )

• at E18.5

short ulna ( J:224370 )

• at E18.5

short femur ( J:224370 )

• at E18.5

short tibia ( J:224370 )

• at E18.5

abnormal scapula morphology ( J:224370 )

• shortened and broadened scapula at E18.5

short scapula ( J:224370 )

• at E18.5

abnormal sternum morphology ( J:224370 )

• shortened, broadened and fused sterna at E18.5

sternebra fusion ( J:224370 )

• fused sterna at E18.5

short sternum ( J:224370 )

• at E18.5

wide sternum ( J:224370 )

• at E18.5

abnormal chondrocyte morphology ( J:224370 )

• chondrocytes are large and spherical instead of discoid, suggesting increased chondrocyte hypertrophy

decreased chondrocyte number ( J:224370 )

• severe reduction of chondrocyte density in humeral growth plates starting at E14.5 and worsening over time

• significant reduction of chondrocyte density in tibial growth plates at E16.5 and E18.5

chondrodystrophy ( J:224370 )

• chondrodysplasia

delayed endochondral bone ossification ( J:224370 )

• severe delay in primary ossification center (POC) formation in the humerus, with no POC noted at E16.5, a partially formed POC at E18.5, and a significantly shorter POC at PO relative to controls

• similar delay in formation of ossification centers in digits (phalange bones)

abnormal intramembranous bone ossification ( J:224370 )

• severe defects in intramembranous ossification, as shown by the complete loss of the skull vault and severe clavicle hypoplasia

limbs/digits/tail

brachyphalangia ( J:224370 )

• blocked (forelimb) or delayed (hindlimb) elongation of distal phalanges at E18.5

brachydactyly ( J:224370 )

• impaired elongation of distal digits

short humerus ( J:224370 )

• at E18.5

short radius ( J:224370 )

• at E18.5

short ulna ( J:224370 )

• at E18.5

short femur ( J:224370 )

• at E18.5

short tibia ( J:224370 )

• at E18.5

abnormal limb development ( J:224370 )

• shortened and broadened limbs at E18.5

short limbs ( J:224370 )

• severe forelimb and hindlimb shortening at E18.5

cellular

increased chondrocyte apoptosis ( J:224370 )

• marked increase of chondrocyte apoptosis noted in the proliferative zone at E14.5 and in the hypertrophic zone at E16.5, as detected by TUNEL staining of humeral growth plates

• upregulation of cleaved (active) caspase-3 in E14.5 chondrocytes, consistent with increased cell apoptosis

decreased chondrocyte proliferation ( J:224370 )

• significant reduction in chondrocyte proliferation rate, as shown by BrdU staining of E14.5 humeral growth plates

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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