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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fermt2tm1.1Gxo
targeted mutation 1.1, Guozhi Xiao
MGI:5788419
Summary 5 genotypes


Genotype
MGI:5791891
hm1
Allelic
Composition
Fermt2tm1.1Gxo/Fermt2tm1.1Gxo
Genetic
Background
B6.129(Cg)-Fermt2tm1.1Gxo
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fermt2tm1.1Gxo mutation (0 available); any Fermt2 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• homozygotes are viable and fertile with no apparent phenotypic abnormalities




Genotype
MGI:5791892
ht2
Allelic
Composition
Fermt2tm1.1Gxo/Fermt2+
Genetic
Background
B6.129(Cg)-Fermt2tm1.1Gxo
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fermt2tm1.1Gxo mutation (0 available); any Fermt2 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• heterozygotes are viable and fertile with no apparent phenotypic abnormalities




Genotype
MGI:5792566
cn3
Allelic
Composition
Fermt2tm1.1Gxo/Fermt2tm1.1Gxo
Tg(Col2a1-cre)1Bhr/0
Genetic
Background
B6.Cg-Fermt2tm1.1Gxo Tg(Col2a1-cre)1Bhr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fermt2tm1.1Gxo mutation (0 available); any Fermt2 mutation (31 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within 1 month of birth because of respiratory distress

growth/size/body
• severe dwarfism at P20
• all mice develop rapid growth retardation after birth

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

limbs/digits/tail
• significant reduction in femur cortical bone thickness at P30
• P0 forelimbs and hindlimbs are shorter than normal

skeleton
N
• mice do not exhibit any marked abnormalities in the skull vault and clavicle, suggesting normal intramembraneous ossification
• reduced skeleton size at P0 and P20
• significant reduction in femur cortical bone thickness at P30
• at P0, representative images of proliferative and hypertrophic zone chondrocytes show disrupted column formation in humeral sections
• significant reduction in the length of all long bones (femur, tibia, humerus, radius and ulna) and their respective bony portions at P0
• P0 ribcage is smaller than normal
• ~80% of mice develop progressive kyphosis
• severe kyphosis at P20
• compression of cervical and thoracic vertebrae resulting from kyphosis
• vertebrae are shorter than normal
• dramatic reduction in femur trabecular bone volume/tissue volume (BV/TV) at P30
• Alcian blue stain of P17 and P30 tibial sections indicates delayed formation of the secondary ossification center and reduced subchondral bone




Genotype
MGI:5791894
cn4
Allelic
Composition
Fermt2tm1.1Gxo/Fermt2+
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
B6.Cg-Fermt2tm1.1Gxo Tg(Prrx1-cre)1Cjt
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fermt2tm1.1Gxo mutation (0 available); any Fermt2 mutation (31 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• 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




Genotype
MGI:5791895
cn5
Allelic
Composition
Fermt2tm1.1Gxo/Fermt2tm1.1Gxo
Tg(Prrx1-cre)1Cjt/0
Genetic
Background
B6.Cg-Fermt2tm1.1Gxo Tg(Prrx1-cre)1Cjt
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fermt2tm1.1Gxo mutation (0 available); any Fermt2 mutation (31 available)
Tg(Prrx1-cre)1Cjt mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice die immediately after birth

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

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

skeleton
• 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
• significant reduction in chondrocyte proliferation rate, as shown by BrdU staining of E14.5 humeral growth plates
• all E14.5-P0 mice exhibit multiple striking skeletal defects
• however, overall body size is not markedly different from that of controls
• complete loss of the skull vault at E16.5, E18.5 and P0
• significant reduction in clavicle length at E18.5
• severe hypoplasia of the clavicle at E18.5
• chondrocytes fail to form regular columns in the proliferative zone of humeral growth plates, unlike in controls
• absence of an organized hypertrophic zone in humeral growth plates at E14.5
• large spherical chondrocytes are scattered throughout the humeral growth plate, instead of forming the highly organized hypertrophic zone seen in controls
• significant reduction in the length of all long bones (femur, tibia, humerus, radius and ulna) and their respective bony portions at E18.5
• blocked (forelimb) or delayed (hindlimb) elongation of distal phalanges at E18.5
• at E18.5
• at E18.5
• at E18.5
• at E18.5
• at E18.5
• shortened and broadened scapula at E18.5
• at E18.5
• shortened, broadened and fused sterna at E18.5
• fused sterna at E18.5
• at E18.5
• at E18.5
• chondrocytes are large and spherical instead of discoid, suggesting increased chondrocyte hypertrophy
• 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
• chondrodysplasia
• 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)
• severe defects in intramembranous ossification, as shown by the complete loss of the skull vault and severe clavicle hypoplasia

limbs/digits/tail
• blocked (forelimb) or delayed (hindlimb) elongation of distal phalanges at E18.5
• impaired elongation of distal digits
• at E18.5
• at E18.5
• at E18.5
• at E18.5
• at E18.5
• shortened and broadened limbs at E18.5
• severe forelimb and hindlimb shortening at E18.5

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





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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory