Phenotypes associated with this allele

• Allele Symbol: Fam20a^tm1Lex
• Allele Name: targeted mutation 1, Lexicon Genetics
• Allele ID: MGI:5432376
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fam20a^tm1Lex/Fam20a^tm1Lex	involves: 129S5/SvEvBrd * C57BL/6	MGI:5432490
ht2	Fam20a^tm1Lex/Fam20a^+	involves: 129S5/SvEvBrd * C57BL/6	MGI:5432489

Genotype
MGI:5432490

hm1

• Allelic Composition: Fam20a^tm1Lex/Fam20a^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

skeleton

abnormal incisor morphology ( J:186384 )

• both the upper and lower incisors show a rough pitted surface from an early age

abnormal lower incisor color ( J:186384 )

• lower incisors are chalky white or opaque

abnormal upper incisor color ( J:186384 )

• upper incisors are chalky white or opaque

abnormal molar morphology ( J:186384 )

• molar teeth of young mice show an opaque and roughened surface

abnormal molar cusp morphology ( J:186384 )

• molar teeth of young mice show marked abrasion of the cusps

conical molar ( J:186384 )

• molar teeth of young mice are peg-like due to absence of enamel

small molars ( J:186384 )

• molar teeth of young mice are small

abnormal enamel morphology ( J:186384 )

abnormal ameloblast morphology ( J:186384 )

• ameloblast layer of developing teeth is disrupted and disorganized

abnormal enamel rod pattern ( J:186384 )

• eosinophilic enamel matrix lacks rod structures

absent enamel ( J:186384 )

• all incisor and molar teeth lack true enamel

enamel pits ( J:186384 )

• incisors show rough pitted surface from an early age

abnormal tooth wear ( J:186384 )

• molar teeth of young mice show marked abrasion of the cusps

• molars wear down to gum line by 53-68 weeks of age

mortality/aging

mortality/aging ( J:186384 )

N • survival is normal to at least 1 year of age

growth/size/body

growth/size/body region phenotype ( J:186384 )

N • growth rate is normal

abnormal incisor morphology ( J:186384 )

• both the upper and lower incisors show a rough pitted surface from an early age

abnormal lower incisor color ( J:186384 )

• lower incisors are chalky white or opaque

abnormal upper incisor color ( J:186384 )

• upper incisors are chalky white or opaque

abnormal molar morphology ( J:186384 )

• molar teeth of young mice show an opaque and roughened surface

abnormal molar cusp morphology ( J:186384 )

• molar teeth of young mice show marked abrasion of the cusps

conical molar ( J:186384 )

• molar teeth of young mice are peg-like due to absence of enamel

small molars ( J:186384 )

• molar teeth of young mice are small

abnormal enamel morphology ( J:186384 )

abnormal ameloblast morphology ( J:186384 )

• ameloblast layer of developing teeth is disrupted and disorganized

abnormal enamel rod pattern ( J:186384 )

• eosinophilic enamel matrix lacks rod structures

absent enamel ( J:186384 )

• all incisor and molar teeth lack true enamel

enamel pits ( J:186384 )

• incisors show rough pitted surface from an early age

abnormal tooth wear ( J:186384 )

• molar teeth of young mice show marked abrasion of the cusps

• molars wear down to gum line by 53-68 weeks of age

craniofacial

abnormal incisor morphology ( J:186384 )

• both the upper and lower incisors show a rough pitted surface from an early age

abnormal lower incisor color ( J:186384 )

• lower incisors are chalky white or opaque

abnormal upper incisor color ( J:186384 )

• upper incisors are chalky white or opaque

abnormal molar morphology ( J:186384 )

• molar teeth of young mice show an opaque and roughened surface

abnormal molar cusp morphology ( J:186384 )

• molar teeth of young mice show marked abrasion of the cusps

conical molar ( J:186384 )

• molar teeth of young mice are peg-like due to absence of enamel

small molars ( J:186384 )

• molar teeth of young mice are small

abnormal enamel morphology ( J:186384 )

abnormal ameloblast morphology ( J:186384 )

• ameloblast layer of developing teeth is disrupted and disorganized

abnormal enamel rod pattern ( J:186384 )

• eosinophilic enamel matrix lacks rod structures

absent enamel ( J:186384 )

• all incisor and molar teeth lack true enamel

enamel pits ( J:186384 )

• incisors show rough pitted surface from an early age

abnormal tooth wear ( J:186384 )

• molar teeth of young mice show marked abrasion of the cusps

• molars wear down to gum line by 53-68 weeks of age

cardiovascular system

abnormal kidney arterial blood vessel morphology ( J:186384 )

• widespread calcification affecting nearly all small and medium sized arteries of the kidney

• irregular lamellated bodies extending into the vascular lumen

• calcification is greater in males than in females

• severity does not increase with age

• calcification sometimes replaced with intramural foci with lymphoplasmacytic inflammation and fibrosis extending into the perivascular connective tissue

calcified artery ( J:186384 )

• severe, widespread ectopic calcification of muscle arteries

• throughout the body but prominent in kidneys

renal/urinary system

abnormal kidney morphology ( J:186384 )

• pitted kidney surface in about 2/3 of mice

abnormal kidney arterial blood vessel morphology ( J:186384 )

• widespread calcification affecting nearly all small and medium sized arteries of the kidney

• irregular lamellated bodies extending into the vascular lumen

• calcification is greater in males than in females

• severity does not increase with age

• calcification sometimes replaced with intramural foci with lymphoplasmacytic inflammation and fibrosis extending into the perivascular connective tissue

dilated renal tubule ( J:186384 )

• scattered dilated tubules

respiratory system

calcified pulmonary alveolus ( J:186384 )

• ectopic mineralization more widespread in males than in females

• initially in alveolar septa but sometimes expanding and merging into large concretions that may replace alveoli

Genotype
MGI:5432489

ht2

• Allelic Composition: Fam20a^tm1Lex/Fam20a⁺
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:186384 )

• heterozygotes are produced in significantly lower numbers than expected