Phenotypes associated with this allele

• Allele Symbol: Kdm6b^tm1.1Cdcn
• Allele Name: targeted mutation 1.1, Charlie Degui Chen
• Allele ID: MGI:5792729
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kdm6b^tm1.1Cdcn/Kdm6b^tm1.1Cdcn	involves: C57BL/6	MGI:5795583

Genotype
MGI:5795583

hm1

• Allelic Composition: Kdm6b^tm1.1Cdcn/Kdm6b^tm1.1Cdcn
• Genetic Background: involves: C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:233350 )

• homozygotes die with cyanosis within half to two hours after birth

growth/size/body

decreased fetal size ( J:233350 )

• dwarfism at E18.5

decreased fetal weight ( J:233350 )

• significant reduction in body weight at E18.5 and E19.5, but not at E14.5-E16.5, relative to wild-type and heterozygous controls

homeostasis/metabolism

cyanosis ( J:233350 )

respiratory system

abnormal lung development ( J:233350 )

• developmental defects of lung tissues at E19.5

skeleton

decreased chondrocyte proliferation ( J:233350 )

• significant reduction of chondrocyte proliferation in E14.5 humeral growth plates relative to wild-type controls, as shown by BrdU incorporation and immunohistochemistry assays

• however, no significant difference in chondrocyte apoptosis is detected between at E14.5 and E16.5

abnormal appendicular skeleton morphology ( J:233350 )

• dwarfism of all appendicular skeletal elements at E18.5

decreased length of long bones ( J:233350 )

• significant shortening of long bones at E14.5-E16.5

short humerus ( J:233350 )

• significant reduction in humerus length at E12.5 (11.2%), E13.5 (18.4%), E14.5 (23.1%), and E16.5 (23.1%)

abnormal axial skeleton morphology ( J:233350 )

• dwarfism of all axial skeletal elements at E18.5

kyphosis ( J:233350 )

• thoracic kyphosis at E18.5

abnormal skeleton development ( J:233350 )

• developmental skeletal defects with no obvious alteration in number or position of skeletal elements at E18.5

abnormal osteoblast differentiation ( J:233350 )

• osteoblast differentiation is delayed relative to wild-type controls

abnormal cartilage development ( J:233350 )

• length of cartilage templates is markedly reduced at E14.5

decreased width of hypertrophic chondrocyte zone ( J:233350 )

• domain of hypertrophic chondrocytes is significantly reduced in E16.5 femurs relative to wild-type controls

delayed chondrocyte differentiation ( J:233350 )

• small prehypertrophic and immature hypertrophic chondrocytes are still present in E14.5 femurs, indicating a severe delay in chondrocyte hypertrophy

decreased bone mineralization ( J:233350 )

• lack or reduced size of mineralized bone tissue in sternum, spinal column, ilium, hindlimbs, forelimbs, and metacarpus at E18.5

• reduced mineralization in E16.5 femurs relative to wild-type controls

delayed endochondral bone ossification ( J:233350 )

• severe delay in the formation of the primary ossification center of skeletal elements (sternum, spinal column, ilium, hindlimbs, forelimbs, and metacarpus) at E18.5

decreased bone ossification ( J:233350 )

• ossified size of humerus is clearly smaller than that in wild-type controls at E16.5

• similar developmental defects in other skeletal elements, such as hindlimbs and vertebrae

limbs/digits/tail

short humerus ( J:233350 )

• significant reduction in humerus length at E12.5 (11.2%), E13.5 (18.4%), E14.5 (23.1%), and E16.5 (23.1%)

short limbs ( J:233350 )

• short limbs at E18.5; length of limbs is generally reduced from E12.5 to E16.5

cellular

abnormal osteoblast differentiation ( J:233350 )

• osteoblast differentiation is delayed relative to wild-type controls

decreased chondrocyte proliferation ( J:233350 )

• significant reduction of chondrocyte proliferation in E14.5 humeral growth plates relative to wild-type controls, as shown by BrdU incorporation and immunohistochemistry assays

• however, no significant difference in chondrocyte apoptosis is detected between at E14.5 and E16.5