Phenotypes associated with this allele

• Allele Symbol: Phospho1^m1Jlm
• Allele Name: mutation 1, Jose Luis Millan
• Allele ID: MGI:5049904
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Phospho1^m1Jlm/Phospho1^m1Jlm	involves: C3HeB/FeJ * C57BL/6	MGI:5049915
cn2	Alpl^tm1Jlm/Alpl^+ Phospho1^m1Jlm/Phospho1^m1Jlm	involves: 129S2/SvPas * C3HeB/FeJ * C57BL/6	MGI:5049916
cx3	Alpl^tm1Jlm/Alpl^tm1Jlm Phospho1^m1Jlm/Phospho1^m1Jlm	involves: 129S2/SvPas * C3HeB/FeJ * C57BL/6	MGI:5049917

Genotype
MGI:5049915

hm1

• Allelic Composition: Phospho1^m1Jlm/Phospho1^m1Jlm
• Genetic Background: involves: C3HeB/FeJ * C57BL/6

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

skeleton

abnormal skeleton morphology ( J:173678 )

• skeletal defects are not rescued by over-expression of Alpl

abnormal long bone morphology ( J:173678 )

bowed humerus ( J:173678 )

bowed radius ( J:173678 )

bowed ulna ( J:173678 )

bowed femur ( J:173678 )

short femur ( J:173678 )

bowed fibula ( J:173678 )

bowed tibia ( J:173678 )

short tibia ( J:173678 )

abnormal clavicle morphology ( J:173678 )

• evident at 1 month of age and becoming worse with age

abnormal rib morphology ( J:173678 )

• evident at 1 month of age and becoming worse with age

scoliosis ( J:173678 )

• at 1 month of age, mice exhibit dextro- and levoscoliosis that becomes worse with age unlike in wild-type mice

abnormal bone structure ( J:173678 )

decreased bone mineral density ( J:173678 )

• in the cortical bone of the femur, tibia, and humerus

decreased bone mineral density of humerus ( J:173678 )

• Ashing analysis showed decreased bone mineral density in the humerus

decreased bone mineral density of femur ( J:173678 )

• cortical bone mineral density is significantly reduced in the femur

increased bone mineral density ( J:173678 )

• in the medular cavity of the tibia

abnormal compact bone morphology ( J:173678 )

• mice exhibit increased cortical porosity in the femur compared with wild-type mice

decreased compact bone thickness ( J:173678 )

• in the tibia

abnormal trabecular bone morphology ( J:173678 )

• mice exhibit decreased trabecular spacing in the medular cavity of the tibia compared to in wild-type mice

increased bone trabecula number ( J:173678 )

• in the medular cavity of the tibia

osteomalacia ( J:173678 )

• in the trabecular bone

failure of bone ossification ( J:173678 )

• at P10, some mice exhibit a complete absence of secondary ossification centers unlike wild-type mice

fragile skeleton ( J:173678 )

• from P1, mice develop greenstick fractures in vertebrae and hind and fore limbs unlike wild-type mice

abnormal chondrocyte physiology ( J:173678 )

• chondrocytes exhibit reduced mineralizing ability compared with wild-type cells

• chondrocyte-derived matrix vesicles exhibit reduced calcification ability compared with wild-type vesicles

behavior/neurological

decreased fluid intake ( J:173678 )

decreased food intake ( J:173678 )

growth/size/body

decreased body size ( J:173678 )

decreased body weight ( J:173678 )

• more prominent at 2 months in male and female mice

postnatal growth retardation ( J:173678 )

homeostasis/metabolism

increased circulating phosphate level ( J:173678 )

• transiently at P10

limbs/digits/tail

bowed humerus ( J:173678 )

decreased bone mineral density of humerus ( J:173678 )

• Ashing analysis showed decreased bone mineral density in the humerus

bowed radius ( J:173678 )

bowed ulna ( J:173678 )

bowed femur ( J:173678 )

short femur ( J:173678 )

bowed fibula ( J:173678 )

bowed tibia ( J:173678 )

short tibia ( J:173678 )

Genotype
MGI:5049916

cn2

• Allelic Composition: Alpl^tm1Jlm/Alpl⁺; Phospho1^m1Jlm/Phospho1^m1Jlm
• Genetic Background: involves: 129S2/SvPas * C3HeB/FeJ * C57BL/6

mortality/aging

prenatal lethality, incomplete penetrance ( J:173678 )

• fewer than expected mice are born

skeleton

bowed tibia ( J:173678 )

• at the site of fractures

scoliosis ( J:173678 )

• prominent at P10

decreased bone mineralization ( J:173678 )

• mice exhibit reduced bone mineralization compared with Phospho1^m1Jlm homozygotes

• mice exhibit osteoidosis unlike wild-type mice

decreased bone ossification ( J:173678 )

• secondary ossification centers are smaller and less developed than in Phospho1^m1Jlm homozygotes

fragile skeleton ( J:173678 )

• prominent at P10

limbs/digits/tail

bowed tibia ( J:173678 )

• at the site of fractures

Genotype
MGI:5049917

cx3

• Allelic Composition: Alpl^tm1Jlm/Alpl^tm1Jlm; Phospho1^m1Jlm/Phospho1^m1Jlm
• Genetic Background: involves: 129S2/SvPas * C3HeB/FeJ * C57BL/6

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:173678 )

• while normal numbers of mice are present at E16.5, only one stillborn mouse is observed from multiple matings

skeleton

abnormal bone mineralization ( J:173678 )

• at E16.5, mice exhibit a complete lack of skeletal mineralization of bone and cartilage compared with wild-type mice

• at E16.5, calcification of vertebral bones and femur is reduced compared to in wild-type mice

• the one stillborn mouse produced lacked mineralization in the appendicular skeleton and exhibit partial mineralization of the axial skeleton and craniofacial bones compared with wild-type mice