Phenotypes associated with this allele

• Allele Symbol: Mirc1^tm1.1Aven
• Allele Name: targeted mutation 1.1, Andrea Ventura
• Allele ID: MGI:5648400
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mirc1^tm1.1Aven/Mirc1^tm1.1Aven	B6.Cg-Mirc1^tm1.1Aven	MGI:5661541
hm2	Mirc1^tm1.1Aven/Mirc1^tm1.1Aven	involves: 129S4/SvJae * C57BL/6 * SJL/J	MGI:5661538
ht3	Mirc1^tm1.1Aven/Mirc1^+	B6.Cg-Mirc1^tm1.1Aven	MGI:5661543

Genotype
MGI:5661541

hm1

• Allelic Composition: Mirc1^tm1.1Aven/Mirc1^tm1.1Aven
• Genetic Background: B6.Cg-Mirc1^tm1.1Aven

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

embryo

abnormal rostral-caudal axis patterning ( J:223213 )

limbs/digits/tail

fused carpal bones ( J:223213 )

• 25% of mice exhibit fusion of the proximal carpal bones

brachyphalangia ( J:223213 )

• the fifth mesophalanx of the forelimb is shortened as compared to controls and heterozygotes

mortality/aging

perinatal lethality, incomplete penetrance ( J:223213 )

• heterozygote x heterozygote matings produce 7% homozygotes rather than the expected 25%

skeleton

fused carpal bones ( J:223213 )

• 25% of mice exhibit fusion of the proximal carpal bones

brachyphalangia ( J:223213 )

• the fifth mesophalanx of the forelimb is shortened as compared to controls and heterozygotes

thoracic vertebral transformation ( J:223213 )

• 56% of mice exhibit a transformation of vertebra 14 (T7 to T8)

• 78% of mice exhibit a transformation of vertebra 20 (T13 to L1a)

lumbar vertebral transformation ( J:223213 )

• all mice exhibit a transformation of vertebra 26 (L6 to S1)

vertebral fusion ( J:223213 )

• 43% of mice exhibit vertebral fusion

delayed bone ossification ( J:223213 )

Genotype
MGI:5661538

hm2

• Allelic Composition: Mirc1^tm1.1Aven/Mirc1^tm1.1Aven
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL/J

cellular

increased B cell apoptosis ( J:223213 )

• increase in fraction of apoptotic pre-B cells

growth/size/body

decreased body weight ( J:223213 )

• 5 week old mice weigh 40% less than controls

hematopoietic system

increased B cell apoptosis ( J:223213 )

• increase in fraction of apoptotic pre-B cells

decreased pro-B cell number ( J:223213 )

decreased B cell number ( J:223213 )

• decrease in total splenic B cells

• decrease in ratio of splenic B cells to T cells and myeloid cells

decreased pre-B cell number ( J:223213 )

• decrease in percentage of pre-B cells in bone marrow

• reduction in pre-B cell numbers

decreased alpha-beta T cell number ( J:223213 )

• decrease in total splenic T cells

decreased myeloid cell number ( J:223213 )

• decrease in total splenic myeloid cell (CD11b+) number

small spleen ( J:223213 )

immune system

increased B cell apoptosis ( J:223213 )

• increase in fraction of apoptotic pre-B cells

decreased pro-B cell number ( J:223213 )

decreased B cell number ( J:223213 )

• decrease in total splenic B cells

• decrease in ratio of splenic B cells to T cells and myeloid cells

decreased pre-B cell number ( J:223213 )

• decrease in percentage of pre-B cells in bone marrow

• reduction in pre-B cell numbers

decreased alpha-beta T cell number ( J:223213 )

• decrease in total splenic T cells

small spleen ( J:223213 )

Genotype
MGI:5661543

ht3

• Allelic Composition: Mirc1^tm1.1Aven/Mirc1⁺
• Genetic Background: B6.Cg-Mirc1^tm1.1Aven

limbs/digits/tail

brachyphalangia ( J:223213 )

• the fifth mesophalanx of the forelimb is shortened, but phenotype is less than in homozygotes

skeleton

brachyphalangia ( J:223213 )

• the fifth mesophalanx of the forelimb is shortened, but phenotype is less than in homozygotes

vertebral fusion ( J:223213 )

• 17% of mice exhibit vertebral fusion