Phenotypes associated with this allele

• Allele Symbol: Met^tm1Cbm
• Allele Name: targeted mutation 1, Carmen Birchmeier
• Allele ID: MGI:1857655
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Met^tm1Cbm/Met^tm1Cbm	involves: 129P2/OlaHsd	MGI:3617776
hm2	Met^tm1Cbm/Met^tm1Cbm	involves: 129P2/OlaHsd * C57BL/6	MGI:3617778
hm3	Met^tm1Cbm/Met^tm1Cbm	involves: ICR	MGI:4938612
ht4	Met^tm1Cbm/Met^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3617779
cx5	Gab1^tm3Wbm/Gab1^tm3Wbm Met^tm1Cbm/Met^+	involves: 129P2/OlaHsd * BALB/cJ * C57BL/6 * CD-1	MGI:3759969
cx6	Cd44^tm1Mak/Cd44^tm1Mak Met^tm1Cbm/Met^+	involves: 129P2/OlaHsd * C57BL/6	MGI:4946521
cx7	Gab1^tm1Wbm/Gab1^tm1Wbm Met^tm1Cbm/Met^tm1Cbm	involves: 129P2/OlaHsd * C57BL/6	MGI:3617777

Genotype
MGI:3617776

hm1

• Allelic Composition: Met^tm1Cbm/Met^tm1Cbm
• Genetic Background: involves: 129P2/OlaHsd

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

embryo

decreased trophoblast giant cell number ( J:68751 )

• at E13.5

abnormal placenta labyrinth morphology ( J:68751 )

• at E13.5, the labyrinth layer is disorganized and reduced in thickness; however the spongiotrophoblast layer is similar to wild-type

liver/biliary system

decreased liver weight ( J:68751 )

• at E14.5, the liver to body weight ratio is significantly reduced (0.053 versus 0.106 in wild-type)

Genotype
MGI:3617778

hm2

• Allelic Composition: Met^tm1Cbm/Met^tm1Cbm
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:28570 )

• from E14.5 to E16.5 the proportion of viable homozygous mice decreases to 16% and 2%, respectively, with none born alive

embryo

abnormal placenta development ( J:28570 )

muscle

abnormal muscle precursor cell migration ( J:28570 )

• between E9.5 and E12, Pax3 expressing cells fail to migrate from the somites into the limbs or diaphragm

abnormal intrinsic tongue muscle morphology ( J:28570 )

• fewer myotubes are present in the intrinsic tongue muscle

abnormal diaphragm development ( J:28570 )

• at E15.5, myotubes are absent from the diaphragm

abnormal myogenesis ( J:28570 )

• myogenesis in the limb buds, diaphragm, and tip of the tongue appears severely disturbed; however axial muscles and other head muscles appear normal

hypaxial muscle hypoplasia ( J:28570 )

• at E15.5, myotubes are absent from the limbs and shoulders

liver/biliary system

abnormal liver parenchyma morphology ( J:28570 )

• the liver parenchyma appears damaged

small liver ( J:28570 )

digestive/alimentary system

abnormal intrinsic tongue muscle morphology ( J:28570 )

• fewer myotubes are present in the intrinsic tongue muscle

decreased tongue size ( J:28570 )

• the overall size of the tongue is reduced

growth/size/body

abnormal intrinsic tongue muscle morphology ( J:28570 )

• fewer myotubes are present in the intrinsic tongue muscle

decreased tongue size ( J:28570 )

• the overall size of the tongue is reduced

decreased fetal size ( J:28570 )

• size is first reduced at E14.5 and becomes more pronounced at E15.5 and E16.5

craniofacial

abnormal intrinsic tongue muscle morphology ( J:28570 )

• fewer myotubes are present in the intrinsic tongue muscle

decreased tongue size ( J:28570 )

• the overall size of the tongue is reduced

cellular

abnormal muscle precursor cell migration ( J:28570 )

• between E9.5 and E12, Pax3 expressing cells fail to migrate from the somites into the limbs or diaphragm

Genotype
MGI:4938612

hm3

• Allelic Composition: Met^tm1Cbm/Met^tm1Cbm
• Genetic Background: involves: ICR

muscle

abnormal muscle precursor cell migration ( J:80685 )

• untreated mutant embryos show impaired muscle precursor migration to peripheral muscles

abnormal diaphragm morphology ( J:80685 )

• untreated mutant embryos display thin amuscular diaphragms that lack any visible striations indicative of muscle fibers

diaphragmatic hernia ( J:80685 )

• a portion of mutant embryos exposed to a combination of nitrofen and bisdiamine on E8 develop defects in the left dorsolateral area of the diaphragm , indicating that diaphragmatic hernias can be induced independent of myogenic processes

• observed hernias cover 40-70% of one side of the diaphragm

thin diaphragm muscle ( J:80685 )

• untreated mutant embryos display thin diaphragms

hypaxial muscle hypoplasia ( J:80685 )

• at E18, untreated mutant embryos display underdeveloped limb musculature due to impaired muscle precursor migration to peripheral muscles

cellular

abnormal muscle precursor cell migration ( J:80685 )

• untreated mutant embryos show impaired muscle precursor migration to peripheral muscles

Genotype
MGI:3617779

ht4

• Allelic Composition: Met^tm1Cbm/Met⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

digestive/alimentary system

abnormal tongue morphology ( J:28570 )

• at E10.5 or E12.5, a reduction in the number of myogenin expressing cells is seen in the developing tongue

craniofacial

abnormal tongue morphology ( J:28570 )

• at E10.5 or E12.5, a reduction in the number of myogenin expressing cells is seen in the developing tongue

growth/size/body

abnormal tongue morphology ( J:28570 )

• at E10.5 or E12.5, a reduction in the number of myogenin expressing cells is seen in the developing tongue

Genotype
MGI:3759969

cx5

• Allelic Composition: Gab1^tm3Wbm/Gab1^tm3Wbm; Met^tm1Cbm/Met⁺
• Genetic Background: involves: 129P2/OlaHsd * BALB/cJ * C57BL/6 * CD-1

Cleft palate in Gab1^tm3Wbm/Gab1^tm3Wbm, Gab1^tm2Wbm/Gab1^tm2Wbm, Gab1^tm1Wbm/Gab1^tm1Wbm and Gab1^tm3Wbm/Gab1^tm3Wbm Met^tm1Cbm/Met⁺ mice, but not in Gab1^tm4Wbm/Gab1^tm4Wbm mice

craniofacial

cleft secondary palate ( J:125303 )

• incidences of cleft palate are enhanced compared to in Gab1^tm3Wbm homozygotes

digestive/alimentary system

cleft secondary palate ( J:125303 )

• incidences of cleft palate are enhanced compared to in Gab1^tm3Wbm homozygotes

growth/size/body

cleft secondary palate ( J:125303 )

• incidences of cleft palate are enhanced compared to in Gab1^tm3Wbm homozygotes

Genotype
MGI:4946521

cx6

• Allelic Composition: Cd44^tm1Mak/Cd44^tm1Mak; Met^tm1Cbm/Met⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

lethality, incomplete penetrance ( J:128984 )

• shortly after birth, 70% of the animals die of breathing difficulties

neonatal lethality, incomplete penetrance ( J:128984 )

• shortly after birth, 70% of the animals die of breathing difficulties

respiratory system

primary atelectasis ( J:128984 )

• multifocal atelectasis in the lung caused by a primary asphyxia

• in 76% of the mutant animals, the lungs sank, indicating that they are not inflated

respiratory distress ( J:128984 )

• shortly after birth, 70% of the animals die of breathing difficulties

nervous system

abnormal phrenic nerve morphology ( J:128984 )

• individual Schwann cell profiles ensheath more axons than in control mice

• less Schwann cell profiles than in controls ensheath only one axon

• increased number of Schwann cells associated with bundles of axons without intervening Schwann cell processes

• reduced number of segregated axons

• decreased percentage of segregated axons with a diameter size between 0.75 to 1.00 um

• slightly increased percentage of small (<0.75 um) and large (>1.00 um) caliber axons

abnormal miniature excitatory postsynaptic currents ( J:128984 )

• even more severe impairment of excitatory synaptic transmission in preBotC neurons

• decreased frequency of glutamatergic mEPSCs in preBotC neurons, compare with Cd44^tm1Mak homozygous mice

• moderately decreased amplitude

abnormal miniature inhibitory postsynaptic currents ( J:128984 )

• reduced spontaneous postsynaptic currents (sPSCs) in preBotC neurons

• amplitudes are not changed

decreased miniature inhibitory postsynaptic current frequency ( J:128984 )

• decreased frequency of glycinergic and GABAergic miniature mIPSCs in preBotC neurons

Genotype
MGI:3617777

cx7

• Allelic Composition: Gab1^tm1Wbm/Gab1^tm1Wbm; Met^tm1Cbm/Met^tm1Cbm
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

muscle

hypaxial muscle hypoplasia ( J:68751 )

• at E14.5, muscles are virtually absent from all lower limbs