Phenotypes associated with this allele

• Allele Symbol: Matn1^tm1Ref
• Allele Name: targeted mutation 1, Reinhard Fassler
• Allele ID: MGI:2153051
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Matn1^tm1Ref/Matn1^tm1Ref	either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)	MGI:3045409
cx2	Matn1^tm1Ref/Matn1^tm1Ref Matn2^tm1Asz/Matn2^tm1Asz Matn3^tm1Asz/Matn3^tm1Asz Matn4^tm1.1Asz/Matn4^tm1.1Asz	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:6727911

Genotype
MGI:3045409

hm1

• Allelic Composition: Matn1^tm1Ref/Matn1^tm1Ref
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

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

skeleton

skeleton phenotype ( J:67300 , J:117910 )

N • no skeletal malformations at E17.5, during the neonatal period or at 4-8 weeks after birth (J:67300)

N • normal limb and trunk development up to 1 year of age (J:67300)

N • normal chondrocyte morphology and endochondral bone formation (J:67300)

N • normal collagen fibrillar network in the extracellular matrix (J:67300)

N • no compensatory up-regulation of other matrilins in mutant cartilage (J:67300)

N • normal expression levels and extractability profiles of both collagen II and aggrecan in mutant epiphyseal cartilage (J:67300)

N (J:117910)

Genotype
MGI:6727911

cx2

• Allelic Composition: Matn1^tm1Ref/Matn1^tm1Ref; Matn2^tm1Asz/Matn2^tm1Asz; Matn3^tm1Asz/Matn3^tm1Asz; Matn4^tm1.1Asz/Matn4^tm1.1Asz
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

cellular

increased hematopoietic stem cell proliferation ( J:237230 )

• mice show increased proliferation and expansion of HSCs after myelosuppressive chemotherapy (treatment with 5-FU), inflammatory stress (treatment with pI:C) and transplantation (increased competitive repopulation capacity)

• untreated LSK cells exhibit a higher colony-forming potential than wild-type cells, with larger and more colonies, which is more pronounced in secondary colony forming units

hematopoietic system

increased hematopoietic stem cell proliferation ( J:237230 )

• mice show increased proliferation and expansion of HSCs after myelosuppressive chemotherapy (treatment with 5-FU), inflammatory stress (treatment with pI:C) and transplantation (increased competitive repopulation capacity)

• untreated LSK cells exhibit a higher colony-forming potential than wild-type cells, with larger and more colonies, which is more pronounced in secondary colony forming units

decreased double-positive T cell number ( J:237230 )

• slight decrease in T cells (CD4+CD8+)

increased megakaryocyte cell number ( J:237230 )

• slight increase in megakaryocytes (CD41+)

decreased erythrocyte cell number ( J:237230 )

• slight decrease in erythrocytes (Terr119+)

increased granulocyte number ( J:237230 )

• slight increase in granulocytes (CD11b+Gr-1+)

decreased hematopoietic stem cell number ( J:237230 )

• mice exhibit decreased Lin^-Sca-1⁺cKit⁺ (LSK) numbers

• however, quiescent hematopoietic stem cell (HSC) and long term-hematopoietic stem cell (LT-HSC) numbers are normal and amounts of myeloid and lymphoid lineages are normal, with only minor differences in T cells and granulocytes

homeostasis/metabolism

abnormal physiological response to xenobiotic ( J:237230 )

• mice treated with pI:C or the chemotherapeutic 5-fluorouracil (5-FU) show an increase in HSC proliferation and more rapid recovery of white blood cells and platelets than wild-type mice

• despite enhanced proliferative response, HSCs return to quiescence at the same time as wild-type HSCs after pI:C or 5-FU treatment

• serial 5-FU treatments, in which HSCs are repeatedly stressed just after recovery leading to their exhaustion and pancytopenia show no difference in survival curves compared to wild-type HSCs

• LSK and LT-HSC numbers are increased on day 9 after 5-FU treatment compared to in wild-type mice and LSKs show a higher colony-forming potential than wild-type LSKs on day 9 after 5-FU treatment

immune system

decreased double-positive T cell number ( J:237230 )

• slight decrease in T cells (CD4+CD8+)

increased granulocyte number ( J:237230 )

• slight increase in granulocytes (CD11b+Gr-1+)