Phenotypes associated with this allele

• Allele Symbol: Sp7^tm1Crm
• Allele Name: targeted mutation 1, Benoit de Crombrugghe
• Allele ID: MGI:2159411
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sp7^tm1Crm/Sp7^tm1Crm	involves: 129S7/SvEvBrd * C57BL/6	MGI:3029315
cn2	Sox9^tm3(cre)Crm/Sox9^+ Sp7^tm1Crm/Sp7^tm2Crm	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:3610909

Genotype
MGI:3029315

hm1

• Allelic Composition: Sp7^tm1Crm/Sp7^tm1Crm
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:74344 )

• animals die within 15 minutes of birth

homeostasis/metabolism

cyanosis ( J:74344 )

• animals rapidly become cyanotic after birth

limbs/digits/tail

abnormal limb morphology ( J:74344 )

• mice exhibit a severe inward bending of the limbs

respiratory system

respiratory distress ( J:74344 )

• animals exhibit difficulty in breathing after birth

skeleton

clavicle hypoplasia ( J:74344 )

abnormal axial skeleton morphology ( J:74344 )

abnormal rib morphology ( J:74344 )

• ribs are often bent and deformed

abnormal vertebrae morphology ( J:74344 )

• vertebrae are often bent and deformed

abnormal bone mineralization ( J:74344 )

• no mineralization is detectable in various bones of E15.5 embryos; bone trabeculae are frequently absent and mesenchymal cells are present at these locations

Genotype
MGI:3610909

cn2

• Allelic Composition: Sox9^tm3(cre)Crm/Sox9⁺; Sp7^tm1Crm/Sp7^tm2Crm
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:102495 )

• die in the immediate postnatal period due to the absence of bones

skeleton

abnormal limb bone morphology ( J:102495 )

• limb skeletons are hypoplastic, bent, and often deformed

abnormal axial skeleton morphology ( J:102495 )

abnormal rib morphology ( J:102495 )

• ribs are bent and deformed

abnormal vertebrae morphology ( J:102495 )

• vertebrae are bent and deformed

abnormal trabecular bone morphology ( J:102495 )

• endochondral skeletal elements such as the humerus have no bone trabeculae or bone collars

abnormal skeleton development ( J:102495 )

abnormal osteoblast differentiation ( J:102495 )

• osteoblast differentiation is arrested

abnormal bone ossification ( J:102495 )

• exhibit a decrease in endochondral and intramembranous ossification

• skeletal elements formed by endochondral bone formation, including the ribs, limb skeletons, and vertebrae are hypoplastic, bent, and often deformed

abnormal bone mineralization ( J:102495 )

• virtually no mineralization in any facial and skull bones generated by intramembranous bone formation, although very small parts of the maxilla, mandible, and parietal bones were calcified

limbs/digits/tail

abnormal limb bone morphology ( J:102495 )

• limb skeletons are hypoplastic, bent, and often deformed

cellular

abnormal osteoblast differentiation ( J:102495 )

• osteoblast differentiation is arrested