Phenotypes associated with this allele

• Allele Symbol: Abl1^tm1Mlg
• Allele Name: targeted mutation 1, Richard C Mulligan
• Allele ID: MGI:2153718
• Summary: 11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Abl1^tm1Mlg/Abl1^tm1Mlg	129S/SvEv-Abl1^tm1Mlg	MGI:4421542
hm2	Abl1^tm1Mlg/Abl1^tm1Mlg	B6.129-Abl1^tm1Mlg	MGI:4421543
hm3	Abl1^tm1Mlg/Abl1^tm1Mlg	involves: 129S/SvEv * C57BL/6J	MGI:3828503
hm4	Abl1^tm1Mlg/Abl1^tm1Mlg	involves: 129S/SvEv * C57BL/6J * CBA	MGI:4361586
cx5	Abl1^tm1Mlg/Abl1^tm1Mlg Abl2^tm1Ajk/Abl2^+	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J	MGI:2653892
cx6	Abl1^tm1Mlg/Abl1^+ Abl2^tm1Ajk/Abl2^tm1Ajk	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J	MGI:2653894
cx7	Abl1^tm1Mlg/Abl1^tm1Mlg Abl2^tm1Ajk/Abl2^tm1Ajk	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J	MGI:2653897
cx8	Abl1^tm1Mlg/Abl1^tm1Mlg Tg(ACTB-Abl1*K290R)1Spg/0	involves: 129S/SvEv * C57BL/6J * CBA	MGI:4361588
cx9	Abl1^tm1Mlg/Abl1^tm1Mlg Tg(ACTB-Abl1*IV)1Spg/0	involves: 129S/SvEv * C57BL/6J * CBA	MGI:4361589
cx10	Abl1^tm1Mlg/Abl1^tm1Mlg Tg(ACTB-Abl1*I)1Spg/0 Tg(ACTB-Abl1*IV)1Spg/0	involves: 129S/SvEv * C57BL/6J * CBA	MGI:4361590
cx11	Abl1^tm1Mlg/Abl1^tm1Mlg Tg(ACTB-Abl1*I)1Spg/0	involves: 129S/SvEv * C57BL/6J * CBA	MGI:4361587

Genotype
MGI:4421542

hm1

• Allelic Composition: Abl1^tm1Mlg/Abl1^tm1Mlg
• Genetic Background: 129S/SvEv-Abl1^tm1Mlg

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:156743 )

• about 50% die by P14 compared to about 96% on a congenic C57BL/6J background

Genotype
MGI:4421543

hm2

• Allelic Composition: Abl1^tm1Mlg/Abl1^tm1Mlg
• Genetic Background: B6.129-Abl1^tm1Mlg

growth/size/body

enlarged heart ( J:156743 )

increased heart weight ( J:156743 )

• at E18.5 the heart weight to body weight ratio is increased

heart hyperplasia ( J:156743 )

• at E18.5 and P0

mortality/aging

neonatal lethality, incomplete penetrance ( J:156743 )

• Background Sensitivity: about 90% die between P0 an P1 compared to about 10% perinatal lethality on a mixed 129 and C57BL/6J background

postnatal lethality, incomplete penetrance ( J:156743 )

• Background Sensitivity: only 4% survive to P14 compared to about 50% survival on coisogenic 129 or mixed 129 and C57BL/6J backgrounds

cardiovascular system

abnormal heart morphology ( J:156743 )

• Background Sensitivity: defects in heart morphology develop after E14.5 and peak around birth, in contrast mice on a mixed 129 and C57BL/6J background have grossly normal heart morphology

abnormal myocardial fiber morphology ( J:156743 )

• nuclei shapes are highly irregular at E18.5 and P0

• at E18.5 mitochondria are randomly distributed and large hollow mitochondria characterized by loss of vesicles and cristae are present

• at E18.5 some sarcomeres are fragmented and disorganized with abnormal Z-discs

increased myocardial fiber number ( J:156743 )

• at E18.5 and P0

myocardial fiber disarray ( J:156743 )

• orientation of the fibers is highly irregular at E18.5 and P0

abnormal myocardium compact layer morphology ( J:156743 )

• the ventricular compact layer is expanded at P0

dilated heart atrium ( J:156743 )

• at E18.5

enlarged heart ( J:156743 )

increased heart weight ( J:156743 )

• at E18.5 the heart weight to body weight ratio is increased

heart hyperplasia ( J:156743 )

• at E18.5 and P0

abnormal heart ventricle morphology ( J:156743 )

• almost complete disappearance of the ventricle lumens at P0

abnormal trabecula carnea morphology ( J:156743 )

• the trabecular layer is expanded at P0

• interstitial space between cardiomyocytes is increased

• no signs of fibrosis are detected

thick interventricular septum ( J:156743 )

• thicker at P0

increased heart ventricle size ( J:156743 )

• at E18.5

thick ventricular wall ( J:156743 )

increased fetal cardiomyocyte proliferation ( J:156743 )

• at E18.5 the numbers of mitotic cells are modestly increased in the ventricles and interventricular septum and the increase in mitosis is primarily confined to cardiomyocytes

muscle

abnormal myocardial fiber morphology ( J:156743 )

• nuclei shapes are highly irregular at E18.5 and P0

• at E18.5 mitochondria are randomly distributed and large hollow mitochondria characterized by loss of vesicles and cristae are present

• at E18.5 some sarcomeres are fragmented and disorganized with abnormal Z-discs

increased myocardial fiber number ( J:156743 )

• at E18.5 and P0

myocardial fiber disarray ( J:156743 )

• orientation of the fibers is highly irregular at E18.5 and P0

abnormal trabecula carnea morphology ( J:156743 )

• the trabecular layer is expanded at P0

• interstitial space between cardiomyocytes is increased

• no signs of fibrosis are detected

abnormal myocardium compact layer morphology ( J:156743 )

• the ventricular compact layer is expanded at P0

increased fetal cardiomyocyte proliferation ( J:156743 )

• at E18.5 the numbers of mitotic cells are modestly increased in the ventricles and interventricular septum and the increase in mitosis is primarily confined to cardiomyocytes

cellular

increased fetal cardiomyocyte proliferation ( J:156743 )

• at E18.5 the numbers of mitotic cells are modestly increased in the ventricles and interventricular septum and the increase in mitosis is primarily confined to cardiomyocytes

Genotype
MGI:3828503

hm3

• Allelic Composition: Abl1^tm1Mlg/Abl1^tm1Mlg
• Genetic Background: involves: 129S/SvEv * C57BL/6J

mortality/aging

decreased survivor rate ( J:72875 )

• 65% of mutants die 1-2 weeks after birth

perinatal lethality, incomplete penetrance ( J:156743 )

• about 10% are dead at birth compared to about 90% neonatal lethality on a congenic C57BL/6J background

postnatal lethality, incomplete penetrance ( J:72875 , J:156743 )

• 65% of mutants die 1-2 weeks after birth (J:72875)

• about 50% die by P14 compared to about 96% on a congenic C57BL/6J background (J:156743)

growth/size/body

enlarged esophagus ( J:72875 )

• the few mutants that survive to 3-4 months of age develop megaesophagus

cachexia ( J:72875 )

• 95% of mice become runted after birth

immune system

thymus atrophy ( J:72875 )

• seen in many mutants

decreased lymphocyte cell number ( J:72875 )

• 85% of mutants develop T and B cell lymphopenia

decreased B cell number ( J:72875 )

decreased T cell number ( J:72875 )

decreased thymocyte number ( J:72875 )

• thymus is severely deficient in thymocytes, with predominantly thymic stroma remaining; the few remaining thymocytes are single positives

spleen atrophy ( J:72875 )

• seen in many mutants

lung inflammation ( J:72875 )

• the few mutants that survive to 3-4 months of age develop aspiration pneumonia secondary to the megaesophagus

digestive/alimentary system

enlarged esophagus ( J:72875 )

• the few mutants that survive to 3-4 months of age develop megaesophagus

rectal prolapse ( J:72875 )

• the few mutants that survive to 3-4 months of age develop anal prolapse

liver/biliary system

abnormal hepatocyte morphology ( J:72875 )

• hepatocytes of runted pups contain fatty vacuoles and are degenerating

cardiovascular system

cardiovascular system phenotype ( J:156743 )

N • Background Sensitivity: unlike mice on a C57BL/6J congenic background, heart morphology, even in mice that die perinatally, is grossly normal

hematopoietic system

thymus atrophy ( J:72875 )

• seen in many mutants

decreased lymphocyte cell number ( J:72875 )

• 85% of mutants develop T and B cell lymphopenia

decreased B cell number ( J:72875 )

decreased T cell number ( J:72875 )

decreased thymocyte number ( J:72875 )

• thymus is severely deficient in thymocytes, with predominantly thymic stroma remaining; the few remaining thymocytes are single positives

spleen atrophy ( J:72875 )

• seen in many mutants

respiratory system

lung inflammation ( J:72875 )

• the few mutants that survive to 3-4 months of age develop aspiration pneumonia secondary to the megaesophagus

endocrine/exocrine glands

thymus atrophy ( J:72875 )

• seen in many mutants

decreased thymocyte number ( J:72875 )

• thymus is severely deficient in thymocytes, with predominantly thymic stroma remaining; the few remaining thymocytes are single positives

Genotype
MGI:4361586

hm4

• Allelic Composition: Abl1^tm1Mlg/Abl1^tm1Mlg
• Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

mortality/aging

decreased survivor rate ( J:34643 )

• very low numbers reach weaning age; mortality among survivors continues after weaning

postnatal lethality, incomplete penetrance ( J:34643 )

• between 0 and <5% of homozygotes are detected at weaning, with significant post natal mortality being observed

growth/size/body

decreased body size ( J:34643 )

• observed in survivors

craniofacial

decreased cranium height ( J:34643 )

• foreshortened crania are observed with high prevalence in survivors

digestive/alimentary system

rectal prolapse ( J:34643 )

• prolapsed recta are observed frequently in survivors

hematopoietic system

decreased bone marrow cell number ( J:34643 )

• variable decreases of B lymphocyte progenitors are observed

abnormal spleen morphology ( J:34643 )

• abnormal shape is observed with high prevalence in survivors

immune system

abnormal spleen morphology ( J:34643 )

• abnormal shape is observed with high prevalence in survivors

increased susceptibility to infection ( J:34643 )

• observed in survivors

skeleton

decreased cranium height ( J:34643 )

• foreshortened crania are observed with high prevalence in survivors

vision/eye

abnormal eye morphology ( J:34643 )

• observed in survivors

Genotype
MGI:2653892

cx5

• Allelic Composition: Abl1^tm1Mlg/Abl1^tm1Mlg; Abl2^tm1Ajk/Abl2⁺
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:51887 )

• mutants die between E15.5 and E16

cardiovascular system

hemopericardium ( J:51887 )

• seen in most mutants

pericardial edema ( J:51887 )

distended pericardium ( J:51887 )

• the pericardial sac of many mutants is enlarged and edematous

hemoperitoneum ( J:51887 )

• seen in most mutants

growth/size/body

abnormal peritoneum morphology ( J:51887 )

• the peritoneum of many mutants is enlarged and edematous

homeostasis/metabolism

hemopericardium ( J:51887 )

• seen in most mutants

edema ( J:51887 )

• peritoneum is edematous in many mutants

pericardial edema ( J:51887 )

Genotype
MGI:2653894

cx6

• Allelic Composition: Abl1^tm1Mlg/Abl1⁺; Abl2^tm1Ajk/Abl2^tm1Ajk
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J

mortality/aging

postnatal lethality, incomplete penetrance ( J:51887 )

• only 60% of the expected numbers of mutants are recovered postnatally

growth/size/body

decreased body size ( J:51887 )

• survivors are runted at birth, however they survive well into adulthood

Genotype
MGI:2653897

cx7

• Allelic Composition: Abl1^tm1Mlg/Abl1^tm1Mlg; Abl2^tm1Ajk/Abl2^tm1Ajk
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6J

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:51887 )

• die before E11

nervous system

abnormal neuron differentiation ( J:51887 )

• mutants exhibit delayed appearance of Map2-positive early neurons in the neuroepithelium

abnormal embryonic neuroepithelium morphology ( J:51887 )

• neuroepithelial cells show alterations in actin cytoskeleton

• the neuroepithelium collapses into the lumen of the neural tube at E10.25

delayed neural tube closure ( J:51887 )

• delay of neural tube closure is seen at E9.5, with the neural tube of most embryos closed by E10.25, although in some embryos, gaps remain at one or more fusion points in the head region

cellular

abnormal actin cytoskeleton morphology ( J:51887 )

• neuroepithelial cells show alterations in actin cytoskeleton

increased embryonic tissue cell apoptosis ( J:51887 )

• embryos from E10.5-E11 have massive numbers of apoptotic cells in all tissues of the body

abnormal neuron differentiation ( J:51887 )

• mutants exhibit delayed appearance of Map2-positive early neurons in the neuroepithelium

cardiovascular system

hemopericardium ( J:51887 )

embryo

increased embryonic tissue cell apoptosis ( J:51887 )

• embryos from E10.5-E11 have massive numbers of apoptotic cells in all tissues of the body

abnormal embryonic neuroepithelium morphology ( J:51887 )

• neuroepithelial cells show alterations in actin cytoskeleton

• the neuroepithelium collapses into the lumen of the neural tube at E10.25

delayed neural tube closure ( J:51887 )

• delay of neural tube closure is seen at E9.5, with the neural tube of most embryos closed by E10.25, although in some embryos, gaps remain at one or more fusion points in the head region

homeostasis/metabolism

hemopericardium ( J:51887 )

Genotype
MGI:4361588

cx8

• Allelic Composition: Abl1^tm1Mlg/Abl1^tm1Mlg; Tg(ACTB-Abl1*K290R)1Spg/0
• Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

mortality/aging

decreased survivor rate ( J:34643 )

• very low numbers reach weaning age; mortality among survivors continues after weaning with all (6/6) survivors dying within 3-6 months

postnatal lethality, incomplete penetrance ( J:34643 )

• low numbers of homozygotes are detected at weaning

digestive/alimentary system

abnormal digestive system morphology ( J:34643 )

• animals exhibit bloated gastrointestinal tracts at time of death

hematopoietic system

abnormal spleen morphology ( J:34643 )

• abnormal shape is observed with high prevalence in survivors

immune system

abnormal spleen morphology ( J:34643 )

• abnormal shape is observed with high prevalence in survivors

increased susceptibility to infection ( J:34643 )

• survivors often succumb to infections

Genotype
MGI:4361589

cx9

• Allelic Composition: Abl1^tm1Mlg/Abl1^tm1Mlg; Tg(ACTB-Abl1*IV)1Spg/0
• Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

mortality/aging

mortality/aging ( J:34643 )

N • animals show long-term survival rates comparable to controls

hematopoietic system

decreased bone marrow cell number ( J:34643 )

• variable decreases of B lymphocyte progenitors are observed

Genotype
MGI:4361590

cx10

• Allelic Composition: Abl1^tm1Mlg/Abl1^tm1Mlg; Tg(ACTB-Abl1*I)1Spg/0; Tg(ACTB-Abl1*IV)1Spg/0
• Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

mortality/aging

mortality/aging ( J:34643 )

N • animals show long-term survival rates comparable to controls

Genotype
MGI:4361587

cx11

• Allelic Composition: Abl1^tm1Mlg/Abl1^tm1Mlg; Tg(ACTB-Abl1*I)1Spg/0
• Genetic Background: involves: 129S/SvEv * C57BL/6J * CBA

mortality/aging

mortality/aging ( J:34643 )

N • animals show long-term survival rates comparable to controls

hematopoietic system

decreased bone marrow cell number ( J:34643 )

• variable decreases of B lymphocyte progenitors are observed