Phenotypes Associated with This Genotype

Genotype
MGI:5563097

• Allelic Composition: Clcn7^tm1.1Teti/Clcn7^tm1.1Teti
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

mortality/aging

premature death ( J:203761 )

• die within 30 days of age

• feeding with soft chow does not improve survival

growth/size/body

failure of tooth eruption ( J:203761 )

• lack tooth eruption

decreased body size ( J:203761 )

craniofacial

failure of tooth eruption ( J:203761 )

• lack tooth eruption

nervous system

neurodegeneration ( J:203761 )

• extensive neurodegeneration in the hippocampal regions and cerebellar cortex

Purkinje cell degeneration ( J:203761 )

skeleton

failure of tooth eruption ( J:203761 )

• lack tooth eruption

myelofibrosis ( J:203761 )

• fibrotic bone marrow

osteopetrosis ( J:203761 )

• mice are severely osteopetrotic

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant osteopetrosis 2		DOID:0110938	OMIM:166600	J:203761