Phenotypes associated with this allele

• Allele Symbol: Ano5^em1Huyi
• Allele Name: endonuclease-mediated mutation 1, Ying Hu
• Allele ID: MGI:6489964
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ano5^em1Huyi/Ano5^em1Huyi	C57BL/6N-Ano5^em1Huyi	MGI:6489966
ht2	Ano5^em1Huyi/Ano5^+	C57BL/6N-Ano5^em1Huyi	MGI:6489971

Genotype
MGI:6489966

hm1

• Allelic Composition: Ano5^em1Huyi/Ano5^em1Huyi
• Genetic Background: C57BL/6N-Ano5^em1Huyi

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

reproductive system

reduced male fertility ( J:294237 )

♂ • males show low fertility

skeleton

abnormal osteoblast physiology ( J:294237 )

• osteoblast cultures develop more mineral nodule deposition in osteogenic medium, indicating increased osteoblastogenesis and mineralization

abnormal periodontal ligament morphology ( J:294237 )

• mice show increased blood vessel formation in the periodontal ligament of first molars

abnormal dentin morphology ( J:294237 )

• increase in dentin density

large mandible ( J:294237 )

• mandibles are larger with increased bone density at 12 weeks of age

mandibular hyperostosis ( J:294237 )

abnormal tibia morphology ( J:294237 )

• mice exhibit abnormal shape of tibiae

• however, femoral length or width are not different

bowed tibia ( J:294237 )

• tibiae exhibit variable bowing

abnormal long bone diaphysis morphology ( J:294237 )

• tibiae and femurs exhibit increased diameter of diaphyseal cortices resulting in narrow medullary canals

• diaphysis of femurs and tibia are undertrabeculated

increased bone mineral content ( J:294237 )

• increase in bone mineral content in mandibles and in diaphysis of cortical bones

increased bone mineral density ( J:294237 )

• increase in bone mineral density in mandibles and in diaphysis of cortical bones

decreased bone volume ( J:294237 )

• bone volume fraction in tibiae and femurs is reduced

increased compact bone thickness ( J:294237 )

• thicker cortical bones in mandibles

• tibia exhibit cortical thickening

abnormal trabecular bone morphology ( J:294237 )

• mandibles, femurs and tibias show an increase in trabecular pattern factor

decreased bone trabecula number ( J:294237 )

• trabecular numbers are reduced in mandibles and diaphysis of femurs and tibiae

• trabeculation is decreased outside the metaphyseal region of femurs and tibiae

increased bone trabecular spacing ( J:294237 )

• mandibles, femurs and tibias show increase in trabecular spacing

decreased trabecular bone thickness ( J:294237 )

• mandibles and diaphysis of femurs and tibiae exhibit reduced trabecular bone thickness

osteosclerosis ( J:294237 )

• sclerosis of tubular bones

craniofacial

abnormal periodontal ligament morphology ( J:294237 )

• mice show increased blood vessel formation in the periodontal ligament of first molars

abnormal dentin morphology ( J:294237 )

• increase in dentin density

large mandible ( J:294237 )

• mandibles are larger with increased bone density at 12 weeks of age

mandibular hyperostosis ( J:294237 )

growth/size/body

abnormal periodontal ligament morphology ( J:294237 )

• mice show increased blood vessel formation in the periodontal ligament of first molars

abnormal dentin morphology ( J:294237 )

• increase in dentin density

homeostasis/metabolism

increased circulating alkaline phosphatase level ( J:294237 )

• serum alkaline phosphatase levels are increased by approximately 23% at 12 weeks of age

increased circulating creatine kinase level ( J:294237 )

• in 16-week old mice

immune system

periodontium inflammation ( J:294237 )

• expression of TNF-alpha and IL-6 in blood vessels of the periodontal ligament is increased, suggesting periodontal inflammation

limbs/digits/tail

abnormal tibia morphology ( J:294237 )

• mice exhibit abnormal shape of tibiae

• however, femoral length or width are not different

bowed tibia ( J:294237 )

• tibiae exhibit variable bowing

cardiovascular system

increased angiogenesis ( J:294237 )

• mice show increased angiogenesis at first molars, with mice having approximately 3-fold more blood vessels in the periodontal ligament of first molars

cellular

abnormal osteoblast physiology ( J:294237 )

• osteoblast cultures develop more mineral nodule deposition in osteogenic medium, indicating increased osteoblastogenesis and mineralization

muscle

abnormal skeletal muscle morphology ( J:294237 )

• 16-week old mice begin to show abnormal histology in skeletal muscle

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
gnathodiaphyseal dysplasia		DOID:0111533	OMIM:166260	J:294237

Genotype
MGI:6489971

ht2

• Allelic Composition: Ano5^em1Huyi/Ano5⁺
• Genetic Background: C57BL/6N-Ano5^em1Huyi

skeleton

abnormal osteoblast physiology ( J:294237 )

• osteoblast cultures develop more mineral nodule deposition in osteogenic medium than wild-type cultures but less than in homozygous cultures, indicating intermediate levels of mineralization

abnormal skeleton morphology ( J:294237 )

• mice are phenotypically similar to homozygous mice and exhibit gnathodiaphyseal dysplasia-like skeletal phenotypes with age

homeostasis/metabolism

increased circulating alkaline phosphatase level ( J:294237 )

• serum alkaline phosphatase levels are increased by approximately 23% at 12 weeks of age

cellular

abnormal osteoblast physiology ( J:294237 )

• osteoblast cultures develop more mineral nodule deposition in osteogenic medium than wild-type cultures but less than in homozygous cultures, indicating intermediate levels of mineralization