Phenotypes associated with this allele

• Allele Symbol: Mmachc^{tm1.1(NCOM)Mfgc}
• Allele Name: targeted mutation 1.1, Mammalian Functional Genomics Centre
• Allele ID: MGI:5766143
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mmachc^tm1.1(NCOM)Mfgc/Mmachc^tm1.1(NCOM)Mfgc	C57BL/6N-Mmachc^tm1.1(NCOM)Mfgc/Tcp	MGI:5797658
ht2	Mmachc^tm1.1(NCOM)Mfgc/Mmachc^+	C57BL/6N-Mmachc^tm1.1(NCOM)Mfgc/Tcp	MGI:5797657
cx3	Mmachc^tm1.1(NCOM)Mfgc/Mmachc^tm1.1(NCOM)Mfgc Tg(CAG-Mmachc,-GFP)1Poche/0	C57BL/6-Mmachc^tm1.1(NCOM)Mfgc Tg(CAG-Mmachc,-GFP)1Poche	MGI:6491477

Genotype
MGI:5797658

hm1

• Allelic Composition: Mmachc^{tm1.1(NCOM)Mfgc}/Mmachc^{tm1.1(NCOM)Mfgc}
• Genetic Background: C57BL/6N-Mmachc^{tm1.1(NCOM)Mfgc}/Tcp
• Cell Lines: N01876P1_C_178W_A10

Data Sources

IMPC Data for Mmachc

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

cardiovascular system

abnormal heart ventricle morphology ( J:297666 )

• 4 of 4 mutants at E14.5 exhibit thin, hypertrabeculated ventricles and ventricular septum defects

ventricular septal defect ( J:297666 )

• 4 of 4 mutants exhibit thin, hypertrabeculated ventricles and ventricular septum defects at E14.5

craniofacial

abnormal craniofacial morphology ( J:211773 , J:297666 )

IMPC - TCP (J:211773)

MGI

• 2 of 4 mutants exhibit severe craniofacial dysmorphia at E14.5-E15.5 (J:297666)

abnormal palatal shelf fusion at midline ( J:297666 )

• failure of palate fusion is seen in some E14.5-E15.5 mutants

facial cleft ( J:211773 , J:297666 )

IMPC - TCP (J:211773)

MGI

• facial clefting is seen in some E14.5-E15.5 mutants (J:297666)

digestive/alimentary system

abnormal palatal shelf fusion at midline ( J:297666 )

• failure of palate fusion is seen in some E14.5-E15.5 mutants

embryo

abnormal embryo turning ( J:297666 )

• 7 of 8 embryos at E9.5 have yet to undergo turning

abnormal embryo size ( J:211773 )

IMPC - TCP

decreased embryo size ( J:297666 )

• 7 of 8 embryos are smaller at E9.5

growth/size/body

abnormal palatal shelf fusion at midline ( J:297666 )

• failure of palate fusion is seen in some E14.5-E15.5 mutants

facial cleft ( J:211773 , J:297666 )

IMPC - TCP (J:211773)

MGI

• facial clefting is seen in some E14.5-E15.5 mutants (J:297666)

abnormal embryo size ( J:211773 )

IMPC - TCP

decreased embryo size ( J:297666 )

• 7 of 8 embryos are smaller at E9.5

decreased fetal size ( J:297666 )

• E14.5-E15.5 mutants are smaller

homeostasis/metabolism

edema ( J:211773 )

IMPC - TCP

integument

pallor ( J:211773 )

IMPC - TCP

limbs/digits/tail

polydactyly ( J:211773 )

IMPC - TCP

mortality/aging

preweaning lethality, complete penetrance ( J:211773 )

♀

IMPC - TCP

lethality throughout fetal growth and development, complete penetrance ( J:297666 )

• Mendelian ratios of embryos are seen at E9.5, but only 9.5% recovered at E14.5 and 4% at E15.5, indicating that mutants die after E9.5 but before E15.5

preweaning lethality, incomplete penetrance ( J:211773 )

IMPC - TCP

nervous system

exencephaly ( J:297666 )

• 1 of 4 mutants show exencephaly at E14.5-E15.5

abnormal spinal cord morphology ( J:297666 )

• 4 of 4 mutants exhibit a wavy spinal cord at E14.5-E15.5

vision/eye

abnormal eye morphology ( J:211773 )

IMPC - TCP

microphthalmia ( J:211773 , J:297666 )

IMPC - TCP (J:211773)

MGI

• 4 of 4 mutants show severe microphthalmia or anophthalmia at E14.5-E15.5 (J:297666)

anophthalmia ( J:211773 , J:297666 )

IMPC - TCP (J:211773)

MGI

• 4 of 4 mutants show severe microphthalmia or anophthalmia at E14.5-E15.5 (J:297666)

Genotype
MGI:5797657

ht2

• Allelic Composition: Mmachc^{tm1.1(NCOM)Mfgc}/Mmachc⁺
• Genetic Background: C57BL/6N-Mmachc^{tm1.1(NCOM)Mfgc}/Tcp
• Cell Lines: N01876P1_C_178W_A10

Data Sources

IMPC Data for Mmachc

immune system

enlarged lymph nodes ( J:211773 )

♂

IMPC - TCP

renal/urinary system

small kidney ( J:211773 )

♂

IMPC - TCP

reproductive system

abnormal epididymis morphology ( J:211773 )

♂

IMPC - TCP

respiratory system

abnormal lung morphology ( J:211773 )

IMPC - TCP

Genotype
MGI:6491477

cx3

• Allelic Composition: Mmachc^{tm1.1(NCOM)Mfgc}/Mmachc^{tm1.1(NCOM)Mfgc}; Tg(CAG-Mmachc,-GFP)1Poche/0
• Genetic Background: C57BL/6-Mmachc^{tm1.1(NCOM)Mfgc} Tg(CAG-Mmachc,-GFP)1Poche

growth/size/body

decreased body size ( J:297666 )

• weanlings are on average 30% smaller than controls and remain so throughout adulthood

homeostasis/metabolism

increased circulating homocysteine level ( J:297666 )

• adults exhibit tremendously elevated levels of homocysteine in plasma

increased circulating methylmalonic acid level ( J:297666 )

• adults exhibit tremendously elevated levels of methylmalonic acid in plasma

craniofacial

craniofacial phenotype ( J:297666 )

N • mice do not exhibit any gross craniofacial abnormalities

nervous system

nervous system phenotype ( J:297666 )

N • mice do not exhibit any gross neurological abnormalities

vision/eye

vision/eye phenotype ( J:297666 )

N • mice do not exhibit any gross ocular abnormalities