Phenotypes associated with this allele

• Allele Symbol: Hddc3^tm1Jtchi
• Allele Name: targeted mutation 1, Jen-Tsan Chi
• Allele ID: MGI:8475090
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hddc3^tm1Jtchi/Hddc3^tm1Jtchi	involves: 129 * C57BL/6J	MGI:8476126
cx2	Hddc3^tm1Jtchi/Hddc3^tm1Jtchi Papss2^bm/Papss2^bm	involves: 129 * C57BL/6J * LDJ/Le	MGI:8476128
cx3	Hddc3^tm1Jtchi/Hddc3^tm1Jtchi Papss2^bm/Papss2^+	involves: 129 * C57BL/6J * LDJ/Le	MGI:8476131

Genotype
MGI:8476126

hm1

• Allelic Composition: Hddc3^tm1Jtchi/Hddc3^tm1Jtchi
• Genetic Background: involves: 129 * C57BL/6J

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:393424 )

N • at 5 weeks of age, mice show no significant differences in the levels of heparan sulfate, chondroitin 4-sulfate (C4S) and chondroitin 6-sulfate (C6S) in articular cartilage relative to wild-type controls

Genotype
MGI:8476128

cx2

• Allelic Composition: Hddc3^tm1Jtchi/Hddc3^tm1Jtchi; Papss2^bm/Papss2^bm
• Genetic Background: involves: 129 * C57BL/6J * LDJ/Le

homeostasis/metabolism

abnormal glycosaminoglycan level ( J:393424 )

• at 5 weeks of age, mice show a significant increase in the levels of heparan sulfate and chondroitin 6-sulfate (C6S) -- but not chondroitin 4-sulfate (C4S) -- in articular cartilage, indicating that Hddc3 deletion rescues the defective sulfated glycosaminoglycan (sGAG) production seen in homozygous Papss2^bm mice

skeleton

decreased volumetric bone mineral density ( J:393424 )

• at 5 weeks of age, mice show no significant change in bone density as quantified by bone volume/total volume (BV/TV) relative to homozygous Papss2^bm mice, indicating that Hddc3 deletion fails to rescue the severe bone density loss in homozygous brachymorphic mice

Genotype
MGI:8476131

cx3

• Allelic Composition: Hddc3^tm1Jtchi/Hddc3^tm1Jtchi; Papss2^bm/Papss2⁺
• Genetic Background: involves: 129 * C57BL/6J * LDJ/Le

skeleton

increased volumetric bone mineral density ( J:393424 )

• at 5 weeks of age, mice show a significant increase in bone density as quantified by bone volume/total volume (BV/TV) relative to heterozygous Papss2^bm mice, indicating that Hddc3 deletion improves the bone density loss in heterozygous brachymorphic mice